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.H590D

c.1768C>G

Surrounding Variants

2 papers

NM_005228.5

p.H590R

c.1769A>G

1 paper

NM_005228.5

p.H590Q

c.1770C>A

10 papers

NM_005228.5

p.P589L

c.1766C>T

1 paper

NM_005228.5

p.P589A

c.1765C>G

1 paper

NM_005228.5

p.P589S

c.1765C>T

1 paper

NM_005228.5

p.C591R

c.1771T>C

1 paper

NM_005228.5

p.C591Y

c.1772G>A

1 paper

NM_005228.5

p.C591W

c.1773C>G

6 papers

NM_005228.5

p.G588D

c.1763G>A

1 paper

NM_005228.5

p.H590insFs

c.1768dupC

20 papers

NM_005228.5

p.V592I

c.1774G>A

11 papers

NM_005228.5

p.G588S

c.1762G>A