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.A439V

c.1316C>T

Surrounding Variants

3 papers

NM_005228.5

p.A439A

c.1317A>G

1 paper

NM_005228.5

p.A439P

c.1315G>C

2 papers

NM_005228.5

p.V440I

c.1318G>A

1 paper

NM_005228.5

p.V440F

c.1318G>T

2 papers

NM_005228.5

p.L438R

c.1313T>G

2 papers

NM_005228.5

p.L438delins

c.1313_1314delinsGA

1 paper

NM_005228.5

p.L438F

c.1312C>T

11 papers

NM_005228.5

p.V441I

c.1321G>A

3 papers

NM_005228.5

p.V441F

c.1321G>T

1 paper

NM_005228.5

p.S437S

c.1311T>C

4 papers

NM_005228.5

p.S437Y

c.1310C>A

1 paper

NM_005228.5

p.S437C

c.1310C>G