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.G735C

c.2203G>T

Surrounding Variants

54 papers

NM_005228.5

p.G735S

c.2203G>A

2 papers

NM_005228.5

p.E734D

c.2202A>C

1 paper

NM_005228.5

p.E734E

c.2202A>G

2 papers

NM_005228.5

p.E734D

c.2202A>T

3 papers

NM_005228.5

p.G735D

c.2204G>A

2 papers

NM_005228.5

p.E734A

c.2201A>C

3 papers

NM_005228.5

p.E734G

c.2201A>G

1 paper

NM_005228.5

p.E734_A743del0

c.2202_2228del27

29 papers

NM_005228.5

p.E734K

c.2200G>A

5 papers

NM_005228.5

p.E736K

c.2206G>A

3 papers

NM_005228.5

p.E734Q

c.2200G>C

2 papers

NM_005228.5

p.E736Q

c.2206G>C