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.I646S

c.1937T>G

Surrounding Variants

3 papers

NM_005228.5

p.I646L

c.1936A>C

1 paper

NM_005228.5

p.I646F

c.1936A>T

19 papers

NM_005228.5

p.A647T

c.1939G>A

33 papers

NM_005228.5

p.S645C

c.1934C>G

1 paper

NM_005228.5

p.A647G

c.1940C>G

1 paper

NM_005228.5

p.S645F

c.1934C>T

1 paper

NM_005228.5

p.T648delFs

c.1942delA

3 papers

NM_005228.5

p.T648S

c.1942A>T

2 papers

NM_005228.5

p.T648S

c.1943C>G

6 papers

NM_005228.5

p.P644L

c.1931C>T

1 paper

NM_005228.5

p.T648I

c.1943C>T

3 papers

NM_005228.5

p.P644S

c.1930C>T