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

1 paper

NM_005228.5

p.G719fs

c.2155_2156fs

Surrounding Variants

1023 papers

NM_005228.5

p.G719S

c.2155G>A

35 papers

NM_005228.5

p.G719R

c.2155G>C

726 papers

NM_005228.5

p.G719C

c.2155G>T

164 papers

NM_005228.5

p.G719D

c.2156G>A

NM_001346941.2

p.G452D

c.1355G>A

1069 papers

NM_005228.5

p.G719A

c.2156G>C

1 paper

NM_005228.5

p.L718L

c.2154G>C

20 papers

NM_005228.5

p.G719V

c.2156G>T

1 paper

NM_005228.5

p.L718L

c.2154G>T

2 papers

NM_005228.5

p.G719delins

c.2156_2157delinsCA

1 paper

NM_005228.5

p.G719delins

c.2156_2157delinsCT

1 paper

NM_005228.5

p.G719delFs

c.2157delC

1 paper

NM_005228.5

p.L718_G719delins

c.2154_2155delinsTA