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

3 papers

NM_005228.5

p.D587Y

c.1759G>T

Surrounding Variants

3 papers

NM_005228.5

p.D587N

c.1759G>A

3 papers

NM_005228.5

p.D587H

c.1759G>C

1 paper

NM_005228.5

p.D587V

c.1760A>T

2 papers

NM_005228.5

p.D587E

c.1761C>A

2 papers

NM_005228.5

p.D587E

c.1761C>G

1 paper

NM_005228.5

p.I586N

c.1757T>A

1 paper

NM_005228.5

p.I586T

c.1757T>C

1 paper

NM_005228.5

p.I586L

c.1756A>C

1 paper

NM_005228.5

p.I586V

c.1756A>G

11 papers

NM_005228.5

p.G588S

c.1762G>A

6 papers

NM_005228.5

p.G588D

c.1763G>A

1 paper

NM_005228.5

p.H590insFs

c.1768dupC