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.E866V

c.2597A>T

Surrounding Variants

3 papers

NM_005228.5

p.E866A

c.2597A>C

4 papers

NM_005228.5

p.E866G

c.2597A>G

27 papers

NM_005228.5

p.E866K

c.2596G>A

1 paper

NM_005228.5

p.E866E

c.2598G>A

6 papers

NM_005228.5

p.E866Q

c.2596G>C

4 papers

NM_005228.5

p.E866D

c.2598G>C

4 papers

NM_005228.5

p.E866D

c.2598G>T

3 papers

NM_005228.5

p.E866*

c.2596G>T

1 paper

NM_005228.5

p.E866fs

c.2596_2597fs

3 papers

NM_005228.5

p.E865D

c.2595A>C

2 papers

NM_005228.5

p.K867E

c.2599A>G

1 paper

NM_005228.5

p.E865E

c.2595A>G