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.T474S

c.1420A>T

Surrounding Variants

1 paper

NM_005228.5

p.T474A

c.1420A>G

1 paper

NM_005228.5

p.T474K

c.1421C>A

2 papers

NM_005228.5

p.T474I

c.1421C>T

2 papers

NM_005228.5

p.N473K

c.1419T>A

2 papers

NM_005228.5

p.N473K

c.1419T>G

7 papers

NM_005228.5

p.I475V

c.1423A>G

2 papers

NM_005228.5

p.N473D

c.1417A>G

1 paper

NM_005228.5

p.I475R

c.1424T>G

2 papers

NM_005228.5

p.I475M

c.1425A>G

2 papers

NM_005228.5

p.N476D

c.1426A>G

1 paper

NM_005228.5

p.N476Y

c.1426A>T

1 paper

NM_005228.5

p.A472T

c.1414G>A