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

3 papers

NM_005228.5

p.L662Q

c.1985T>A

Surrounding Variants

2 papers

NM_005228.5

p.G663delFs

c.1989delG

1 paper

NM_005228.5

p.L662L

c.1986G>T

1 paper

NM_005228.5

p.G663W

c.1987G>T

2 papers

NM_005228.5

p.A661G

c.1982C>G

1 paper

NM_005228.5

p.A661V

c.1982C>T

2 papers

NM_005228.5

p.G663E

c.1988G>A

1 paper

NM_005228.5

p.G663V

c.1988G>T

2 papers

NM_005228.5

p.A661T

c.1981G>A

1 paper

NM_005228.5

p.I664fs

c.1990_1991fs

1 paper

NM_005228.5

p.V660A

c.1979T>C

1 paper

NM_005228.5

p.I664I

c.1992C>T

1 paper

NM_005228.5

p.G665delFs

c.1994delG