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

4 papers

NM_005228.5

p.E519D

c.1557G>T

Surrounding Variants

4 papers

NM_005228.5

p.E519D

c.1557G>C

1 paper

NM_005228.5

p.E519G

c.1556A>G

1 paper

NM_005228.5

p.E519V

c.1556A>T

1 paper

NM_005228.5

p.P520T

c.1558C>A

1 paper

NM_005228.5

p.P520R

c.1559C>G

2 papers

NM_005228.5

p.P520L

c.1559C>T

2 papers

NM_005228.5

p.E519K

c.1555G>A

1 paper

NM_005228.5

p.E519Q

c.1555G>C

1 paper

NM_005228.5

p.R521delFs

c.1561_1562delAG

3 papers

NM_005228.5

p.P518P

c.1554G>A

2 papers

NM_005228.5

p.P518P

c.1554G>C

2 papers

NM_005228.5

p.R521G

c.1561A>G