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.C219Fs

c.656delinsGCFs

Surrounding Variants

1 paper

NM_005228.5

p.C219Y

c.656G>A

1 paper

NM_005228.5

p.S220delFs

c.658_659delTC

2 papers

NM_005228.5

p.C219C

c.657C>T

1 paper

NM_005228.5

p.C219R

c.655T>C

4 papers

NM_005228.5

p.C219G

c.655T>G

1 paper

NM_005228.5

p.Q218Q

c.654G>A

1 paper

NM_005228.5

p.Q218H

c.654G>T

2 papers

NM_005228.5

p.S220P

c.658T>C

1 paper

NM_005228.5

p.C219delFs

c.655_656delTG

2 papers

NM_005228.5

p.S220C

c.659C>G

1 paper

NM_005228.5

p.S220F

c.659C>T

4 papers

NM_005228.5

p.G221R

c.661G>A