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

11 papers

NM_005228.5

p.D256G

c.767A>G

Surrounding Variants

4 papers

NM_005228.5

p.D256A

c.767A>C

8 papers

NM_005228.5

p.D256V

c.767A>T

3 papers

NM_005228.5

p.D256E

c.768C>A

1 paper

NM_005228.5

p.D256_E257insFs

c.768_769insAG

2 papers

NM_005228.5

p.E257insFs

c.769dupG

3 papers

NM_005228.5

p.D256E

c.768C>G

2 papers

NM_005228.5

p.D256D

c.768C>T

1 paper

NM_005228.5

p.D256N

c.766G>A

1 paper

NM_005228.5

p.D256H

c.766G>C

14 papers

NM_005228.5

p.D256Y

c.766G>T

2 papers

NM_005228.5

p.D256_E257ins0

c.768_770dupCGA

7 papers

NM_005228.5

p.E257K

c.769G>A