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

2 papers

NM_005228.5

p.A289P

c.865G>C

Surrounding Variants

100 papers

NM_005228.5

p.A289T

c.865G>A

NM_001346897.2

p.A244T

c.730G>A

1 paper

NM_005228.5

p.A289S

c.865G>T

1 paper

NM_005228.5

p.A289delFs

c.867delC

1 paper

NM_005228.5

p.A289fs

c.865_866fs

84 papers

NM_005228.5

p.A289D

c.866C>A

1 paper

NM_005228.5

p.A289G

c.866C>G

259 papers

NM_005228.5

p.A289V

c.866C>T

1 paper

NM_005228.5

p.T290delFs

c.868delA

1 paper

NM_005228.5

p.G288D

c.863G>A

7 papers

NM_005228.5

p.G288A

c.863G>C

2 papers

NM_005228.5

p.G288V

c.863G>T

1 paper

NM_005228.5

p.G288delFs

c.864delT