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.V660L

c.1978G>C

Surrounding Variants

1 paper

NM_005228.5

p.V660M

c.1978G>A

1 paper

NM_005228.5

p.V660L

c.1978G>T

1 paper

NM_005228.5

p.V659V

c.1977G>T

1 paper

NM_005228.5

p.V660A

c.1979T>C

15 papers

NM_005228.5

p.V659E

c.1976T>A

3 papers

NM_005228.5

p.V659A

c.1976T>C

2 papers

NM_005228.5

p.V659G

c.1976T>G

2 papers

NM_005228.5

p.V659M

c.1975G>A

2 papers

NM_005228.5

p.A661T

c.1981G>A

3 papers

NM_005228.5

p.V659L

c.1975G>C

3 papers

NM_005228.5

p.V659L

c.1975G>T

2 papers

NM_005228.5

p.A661G

c.1982C>G