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.K293Q

c.877A>C

Surrounding Variants

2 papers

NM_005228.5

p.K293*

c.877A>T

3 papers

NM_005228.5

p.K293T

c.878A>C

1 paper

NM_005228.5

p.K293R

c.878A>G

1 paper

NM_005228.5

p.V292V

c.876G>A

1 paper

NM_005228.5

p.K293K

c.879G>A

1 paper

NM_005228.5

p.K293N

c.879G>C

1 paper

NM_005228.5

p.K293N

c.879G>T

1 paper

NM_005228.5

p.V292E

c.875T>A

1 paper

NM_005228.5

p.V292A

c.875T>C

1 paper

NM_005228.5

p.V292G

c.875T>G

1 paper

NM_005228.5

p.K294E

c.880A>G

14 papers

NM_005228.5

p.V292M

c.874G>A