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.E736Q

c.2206G>C

Surrounding Variants

5 papers

NM_005228.5

p.E736K

c.2206G>A

1 paper

NM_005228.5

p.E736G

c.2207A>G

2 papers

NM_005228.5

p.E736V

c.2207A>T

3 papers

NM_005228.5

p.G735D

c.2204G>A

4 papers

NM_005228.5

p.K737E

c.2209A>G

1 paper

NM_005228.5

p.K737_I740delins

c.2209_2219delinsCCACACTGGGA

54 papers

NM_005228.5

p.G735S

c.2203G>A

1 paper

NM_005228.5

p.G735C

c.2203G>T

2 papers

NM_005228.5

p.E734D

c.2202A>C

2 papers

NM_005228.5

p.K737T

c.2210A>C

4 papers

NM_005228.5

p.K737R

c.2210A>G

1 paper

NM_005228.5

p.E734E

c.2202A>G