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.W477fs

c.1429_1430fs

Surrounding Variants

1 paper

NM_005228.5

p.W477fs

c.1429_1430fs

2 papers

NM_005228.5

p.W477*

c.1430G>A

1 paper

NM_005228.5

p.W477_K478delFs

c.1431_1432delGA

1 paper

NM_005228.5

p.N476S

c.1427A>G

1 paper

NM_005228.5

p.W477*

c.1431G>A

1 paper

NM_005228.5

p.W477C

c.1431G>C

1 paper

NM_005228.5

p.K479insFs

c.1437dupA

1 paper

NM_005228.5

p.W477C

c.1431G>T

1 paper

NM_005228.5

p.K479delFs

c.1437delA

1 paper

NM_005228.5

p.W477_K478Fs

c.1431_1432delinsTFs

2 papers

NM_005228.5

p.K479delFs

c.1436_1437delAA

4 papers

NM_005228.5

p.K478_T483del6

c.1432_1448del18