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.A9V

c.26C>T

Surrounding Variants

1 paper

NM_005228.5

p.A9insFs

c.27dupA

1 paper

NM_005228.5

p.A9_A10ins1

c.27_28insGTA

1 paper

NM_005228.5

p.A9G

c.26C>G

2 papers

NM_005228.5

p.A10insFs

c.28dupG

1 paper

NM_005228.5

p.A9A

c.27A>T

2 papers

NM_005228.5

p.A9T

c.25G>A

1 paper

NM_005228.5

p.A9P

c.25G>C

1 paper

NM_005228.5

p.A9S

c.25G>T

3 papers

NM_005228.5

p.A10T

c.28G>A

1 paper

NM_005228.5

p.A10P

c.28G>C

1 paper

NM_005228.5

p.G8G

c.24G>T

1 paper

NM_005228.5

p.A10S

c.28G>T