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.K226E

c.676A>G

Surrounding Variants

1 paper

NM_005228.5

p.K226*

c.676A>T

1 paper

NM_005228.5

p.K226delins

c.677delinsTTAC

7 papers

NM_005228.5

p.G225D

c.674G>A

1 paper

NM_005228.5

p.K226K

c.678G>A

2 papers

NM_005228.5

p.G225A

c.674G>C

1 paper

NM_005228.5

p.G225C

c.673G>T

1 paper

NM_005228.5

p.S227P

c.679T>C

1 paper

NM_005228.5

p.S227insFs

c.679_680insAG

4 papers

NM_005228.5

p.S227Y

c.680C>A

1 paper

NM_005228.5

p.S227C

c.680C>G

4 papers

NM_005228.5

p.S227F

c.680C>T

1 paper

NM_005228.5

p.R224_G225insFs

c.672_673insA