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.G239R

c.715G>C

Surrounding Variants

4 papers

NM_005228.5

p.G239S

c.715G>A

3 papers

NM_005228.5

p.G239C

c.715G>T

1 paper

NM_005228.5

p.A238A

c.714A>T

4 papers

NM_005228.5

p.G239D

c.716G>A

5 papers

NM_005228.5

p.G239A

c.716G>C

1 paper

NM_005228.5

p.A238G

c.713C>G

1 paper

NM_005228.5

p.A238V

c.713C>T

1 paper

NM_005228.5

p.A238T

c.712G>A

1003 papers

NM_005228.5

p.C240Y

c.719G>A

677 papers

NM_005228.5

p.C240S

c.719G>C

1 paper

NM_005228.5

p.C240F

c.719G>T

1 paper

NM_005228.5

p.A238_G242delFs

c.712_725del14