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

4 papers

NM_005228.5

p.Y117C

c.350A>G

Surrounding Variants

1 paper

NM_005228.5

p.Y117F

c.350A>T

1 paper

NM_005228.5

p.A118delFs

c.352delG

1 paper

NM_005228.5

p.S116S

c.348C>G

2 papers

NM_005228.5

p.S116S

c.348C>T

1 paper

NM_005228.5

p.A118insFs

c.353dupC

1 paper

NM_005228.5

p.A118fs

c.352_353fs

2 papers

NM_005228.5

p.A118S

c.352G>T

1 paper

NM_005228.5

p.A118delFs

c.353delC

1 paper

NM_005228.5

p.A118D

c.353C>A

2 papers

NM_005228.5

p.A118G

c.353C>G

8 papers

NM_005228.5

p.A118V

c.353C>T

5 papers

NM_005228.5

p.S116F

c.347C>T