Transcript #00000085

Transcript name Fanconi anemia, complementation group M
Gene name FANCM (FA complementation group M)
Chromosome 14
Transcript - NCBI ID NM_020937.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_065988.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

269 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-30T>C r.(=) p.(=)
./. - c.53G>A r.(?) p.(Arg18Gln)
./. - c.53G>A r.(?) p.(Arg18Gln)
./. - c.163G>A r.(?) p.(Asp55Asn)
./. - c.171G>C r.(?) p.(Leu57Phe)
./. - c.171G>C r.(?) p.(Leu57Phe)
./. - c.231C>T r.(=) p.(=)
./. - c.235G>C r.(?) p.(Ala79Pro)
./. - c.269C>T r.(?) p.(Pro90Leu)
./. - c.346G>C r.(?) p.(Gly116Arg)
./. - c.438G>A r.(=) p.(=)
./. - c.454G>T r.(?) p.(Glu152*)
./. - c.455A>T r.(?) p.(Glu152Val)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.527C>T r.(?) p.(Thr176Ile)
./. - c.547A>C r.(?) p.(Ser183Arg)
./. - c.637A>G r.(?) p.(Ile213Val)
./. - c.682-49T>C r.(=) p.(=)
./. - c.693A>G r.(=) p.(=)
./. - c.760-38C>T r.(=) p.(=)
./. - c.950A>G r.(?) p.(Gln317Arg)
./. - c.1051-48A>C r.(=) p.(=)
./. - c.1054A>C r.(?) p.(Ile352Leu)
./. - c.1097G>A r.(?) p.(Ser366Asn)
./. - c.1159T>G r.(?) p.(Cys387Gly)
./. - c.1159T>G r.(?) p.(Cys387Gly)
./. - c.1184-49T>G r.(=) p.(=)
./. - c.1184-49T>G r.(=) p.(=)
./. - c.1184-49T>G r.(=) p.(=)
./. - c.1184-48A>G r.(=) p.(=)
./. - c.1184-48A>G r.(=) p.(=)
./. - c.1184-48A>G r.(=) p.(=)
./. - c.1184-48A>G r.(=) p.(=)
./. - c.1184-48A>G r.(=) p.(=)
./. - c.1184-48A>G r.(=) p.(=)
./. - c.1184-48A>G r.(=) p.(=)
./. - c.1221A>G r.(=) p.(=)
./. - c.1221A>G r.(=) p.(=)
./. - c.1309+25G>A r.(=) p.(=)
./. - c.1309+25G>A r.(=) p.(=)
./. - c.1309+25G>A r.(=) p.(=)
./. - c.1309+25G>A r.(=) p.(=)
./. - c.1309+25G>A r.(=) p.(=)
./. - c.1309+25G>A r.(=) p.(=)
./. - c.1309+25G>A r.(=) p.(=)
./. - c.1309+25G>A r.(=) p.(=)
./. - c.1309+47C>G r.(=) p.(=)
./. - c.1310-26A>G r.(=) p.(=)
./. - c.1310-26A>G r.(=) p.(=)
./. - c.1310-26A>G r.(=) p.(=)
./. - c.1310-26A>G r.(=) p.(=)
./. - c.1397-16_1397-15insTA r.spl? p.?
./. - c.1397-16_1397-15insTA r.spl? p.?
./. - c.1490C>T r.(?) p.(Ser497Leu)
./. - c.1567A>G r.(?) p.(Lys523Glu)
./. - c.1576C>G r.(?) p.(Leu526Val)
./. - c.1576C>G r.(?) p.(Leu526Val)
./. - c.1597C>T r.(?) p.(Arg533Cys)
./. - c.1641A>G r.(=) p.(=)
./. - c.1667A>G r.(?) p.(Asp556Gly)
./. - c.1667A>G r.(?) p.(Asp556Gly)
./. - c.1760T>C r.(?) p.(Ile587Thr)
./. - c.1784A>C r.(?) p.(Glu595Ala)
./. - c.1789-12T>A r.(=) p.(=)
./. - c.1809C>A r.(=) p.(=)
./. - c.1814A>G r.(?) p.(Lys605Arg)
./. - c.1846A>G r.(?) p.(Arg616Gly)
./. - c.1846A>G r.(?) p.(Arg616Gly)
./. - c.1846A>G r.(?) p.(Arg616Gly)
./. - c.1846A>G r.(?) p.(Arg616Gly)
./. - c.1846A>G r.(?) p.(Arg616Gly)
./. - c.1846A>G r.(?) p.(Arg616Gly)
./. - c.1846A>G r.(?) p.(Arg616Gly)
./. - c.1846A>G r.(?) p.(Arg616Gly)
./. - c.1972C>T r.(?) p.(Arg658*)
./. - c.1972C>T r.(?) p.(Arg658*)
./. - c.1972C>T r.(?) p.(Arg658*)
./. - c.1984A>G r.(?) p.(Ile662Val)
./. - c.2002+25A>G r.(=) p.(=)
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