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.N280Y

c.838A>T

Surrounding Variants

4 papers

NM_005228.5

p.N280D

c.838A>G

1 paper

NM_005228.5

p.N280T

c.839A>C

36 papers

NM_005228.5

p.N280I

c.839A>T

4 papers

NM_005228.5

p.P281delFs

c.842delC

1 paper

NM_005228.5

p.V279V

c.837G>A

1 paper

NM_005228.5

p.V279_N280delins

c.837_838delinsCG

3 papers

NM_005228.5

p.N280K

c.840C>A

3 papers

NM_005228.5

p.N280K

c.840C>G

1 paper

NM_005228.5

p.N280N

c.840C>T

1 paper

NM_005228.5

p.V279insFs

c.836_837insC

2 papers

NM_005228.5

p.P281T

c.841C>A

1 paper

NM_005228.5

p.P281fs

c.841_842fs