Varaico: Literature-Extracted Genetic Variants

EGFR

13,423 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR ...

Pfam Domains

Recep_L_domainaa 57–144UCSCReceptor L domain

Recep_L_domainaa 57–168UCSCReceptor L domain

Furin-likeaa 177–338UCSCFurin-like cysteine rich region

Recep_L_domainaa 308–428UCSCReceptor L domain

GF_recep_IVaa 452–584UCSCGrowth factor receptor domain IV

TM_ErbB1aa 593–628UCSCEpidermal growth factor receptor transmembrane-juxtamembrane segment

Gene Aliases

HGNC Name

epidermal growth factor receptor

HGNC Alias Symbols

ERBB1; ERRP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_005228.5

p.E804G

c.2411A>G

Surrounding Variants

1 paper

NM_005228.5

p.H805_K806delFs

c.2415_2416delCA

1 paper

NM_005228.5

p.E804D

c.2412A>C

1 paper

NM_005228.5

p.E804D

c.2412A>T

14 papers

NM_005228.5

p.E804K

c.2410G>A

1 paper

NM_005228.5

p.E804*

c.2410G>T

1 paper

NM_005228.5

p.H805N

c.2413C>A

3 papers

NM_005228.5

p.H805Y

c.2413C>T

1 paper

NM_005228.5

p.R803_E804delins

c.2409_2410delinsAA

1 paper

NM_005228.5

p.R803_E804delins

c.2409_2410delinsTT

1 paper

NM_005228.5

p.E804delFs

c.2410_2411delGA

3 papers

NM_005228.5

p.H805R

c.2414A>G

5 papers

NM_005228.5

p.H805L

c.2414A>T