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

2 papers

NM_005228.5

p.G459E

c.1376G>A

Surrounding Variants

4 papers

NM_005228.5

p.G459A

c.1376G>C

1 paper

NM_005228.5

p.G459_D460insFs

c.1377_1378insA

1 paper

NM_005228.5

p.G459V

c.1376G>T

1 paper

NM_005228.5

p.D460delFs

c.1378delG

2 papers

NM_005228.5

p.G459R

c.1375G>A

1 paper

NM_005228.5

p.G459R

c.1375G>C

1 paper

NM_005228.5

p.D460insFs

c.1378_1379insA

1 paper

NM_005228.5

p.D458E

c.1374T>A

2 papers

NM_005228.5

p.D458E

c.1374T>G

1 paper

NM_005228.5

p.D460G

c.1379A>G

2 papers

NM_005228.5

p.D460V

c.1379A>T

1 paper

NM_005228.5

p.D458H

c.1372G>C