EGFR gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

To access more data, such as phenotypic and clinical characteristics of patients, contact us at canvas@rrp.demokritos.gr

CanVaS - A Greek Cancer Patient Genetic Variation Resource

EGFR (epidermal growth factor receptor)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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EGFR gene homepage

General information
Gene symbol	EGFR
Gene name	epidermal growth factor receptor
Chromosome	7
Chromosomal band	p11.2
Imprinted	Unknown
Genomic reference	LRG_304
Transcript reference	NM_005228.3, NM_201282.1, NM_201283.1, NM_201284.1
Associated with diseases	LuCa, NISBD2
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	375
Unique public DNA variants reported	91
Individuals with public variants	444
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	EGFR:220516

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	3236
Entrez Gene	1956
PubMed articles	EGFR
OMIM - Gene	131550
OMIM - Diseases	LuCa (Lung Cancer) NISBD2 (Inflammatory skin and bowel disease, neonatal, 2)

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000050	7	transcript variant 1	NM_005228.3	NP_005219.2	375
00000053	7	transcript variant 4	NM_201284.1	NP_958441.1	164
00000051	7	transcript variant 2	NM_201282.1	NP_958439.1	156
00000052	7	transcript variant 3	NM_201283.1	NP_958440.1	72

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