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

3 papers

NM_005228.5

p.H584Y

c.1750C>T

Surrounding Variants

2 papers

NM_005228.5

p.H584N

c.1750C>A

2 papers

NM_005228.5

p.H584R

c.1751A>G

1 paper

NM_005228.5

p.A583D

c.1748C>A

3 papers

NM_005228.5

p.A583G

c.1748C>G

1 paper

NM_005228.5

p.A583V

c.1748C>T

1 paper

NM_005228.5

p.A583S

c.1747G>T

1 paper

NM_005228.5

p.Y585insFs

c.1754_1755ins7

1 paper

NM_005228.5

p.Y585S

c.1754A>C

3 papers

NM_005228.5

p.Y585C

c.1754A>G

1 paper

NM_005228.5

p.C582Y

c.1745G>A

1 paper

NM_005228.5

p.I586L

c.1756A>C

1 paper

NM_005228.5

p.I586V

c.1756A>G