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

2 papers

NM_005228.5

p.G87V

c.260G>T

Surrounding Variants

2 papers

NM_005228.5

p.G87D

c.260G>A

4 papers

NM_005228.5

p.G87C

c.259G>T

1 paper

NM_005228.5

p.G87_Y88insFs

c.261_262insC

1 paper

NM_005228.5

p.Y88H

c.262T>C

2 papers

NM_005228.5

p.Y88C

c.263A>G

4 papers

NM_005228.5

p.A86V

c.257C>T

3 papers

NM_005228.5

p.A86T

c.256G>A

1 paper

NM_005228.5

p.A86fs

c.256_257fs

1 paper

NM_005228.5

p.A86S

c.256G>T

1 paper

NM_005228.5

p.G87_L93delFs

c.259_278del20

2 papers

NM_005228.5

p.V89I

c.265G>A

1 paper

NM_005228.5

p.V85V

c.255G>A