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.S227S

c.681C>G

Surrounding Variants

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

2 papers

NM_005228.5

p.P228S

c.682C>T

2 papers

NM_005228.5

p.P228R

c.683C>G

3 papers

NM_005228.5

p.P228L

c.683C>T

1 paper

NM_005228.5

p.S227P

c.679T>C

1 paper

NM_005228.5

p.S227insFs

c.679_680insAG

1 paper

NM_005228.5

p.P228P

c.684C>A

1 paper

NM_005228.5

p.P228P

c.684C>G

1 paper

NM_005228.5

p.K226K

c.678G>A

1 paper

NM_005228.5

p.S229fs

c.685_686fs