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.I490V

c.1468A>G

Surrounding Variants

2 papers

NM_005228.5

p.K489R

c.1466A>G

1 paper

NM_005228.5

p.K489insFs

c.1465_1466insC

1 paper

NM_005228.5

p.K489Q

c.1465A>C

4 papers

NM_005228.5

p.K489E

c.1465A>G

1 paper

NM_005228.5

p.I490_N493delFs

c.1468_1478del11

1 paper

NM_005228.5

p.T488T

c.1464C>G

1 paper

NM_005228.5

p.T488T

c.1464C>T

5 papers

NM_005228.5

p.I491K

c.1472T>A

1 paper

NM_005228.5

p.I491T

c.1472T>C

3 papers

NM_005228.5

p.I491R

c.1472T>G

19 papers

NM_005228.5

p.I491M

c.1473A>G

1 paper

NM_005228.5

p.T488N

c.1463C>A