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.C595R

c.1783T>C

Surrounding Variants

2 papers

NM_005228.5

p.C595S

c.1783T>A

2 papers

NM_005228.5

p.C595G

c.1783T>G

6 papers

NM_005228.5

p.C595Y

c.1784G>A

2 papers

NM_005228.5

p.C595S

c.1784G>C

3 papers

NM_005228.5

p.C595F

c.1784G>T

3 papers

NM_005228.5

p.T594N

c.1781C>A

1 paper

NM_005228.5

p.C595_P596insFs

c.1785_1786insA

1 paper

NM_005228.5

p.C595W

c.1785C>G

3 papers

NM_005228.5

p.T594I

c.1781C>T

1 paper

NM_005228.5

p.T594insFs

c.1782dupC

1 paper

NM_005228.5

p.P596A

c.1786C>G

12 papers

NM_005228.5

p.P596S

c.1786C>T