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.G283delFs

c.848_849delGC

Surrounding Variants

3 papers

NM_005228.5

p.G283C

c.847G>T

1 paper

NM_005228.5

p.G283D

c.848G>A

3 papers

NM_005228.5

p.G283A

c.848G>C

1 paper

NM_005228.5

p.E282D

c.846G>C

1 paper

NM_005228.5

p.G283insFs

c.849dupC

2 papers

NM_005228.5

p.E282D

c.846G>T

2 papers

NM_005228.5

p.G283V

c.848G>T

2 papers

NM_005228.5

p.G283G

c.849C>T

1 paper

NM_005228.5

p.K284delFs

c.852delA

2 papers

NM_005228.5

p.K284E

c.850A>G

1 paper

NM_005228.5

p.K284*

c.850A>T

1 paper

NM_005228.5

p.K284_F287delFs

c.851_860del10