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

157 papers

NM_005228.5

p.G598V

c.1793G>T

Surrounding Variants

4 papers

NM_005228.5

p.G598E

c.1793G>A

21 papers

NM_005228.5

p.G598A

c.1793G>C

1 paper

NM_005228.5

p.V599ins0

c.1795_1797dupGTC

1 paper

NM_005228.5

p.G598_V599ins1

c.1794_1795insGTT

4 papers

NM_005228.5

p.G598R

c.1792G>A

3 papers

NM_005228.5

p.G598R

c.1792G>C

1 paper

NM_005228.5

p.G598*

c.1792G>T

2 papers

NM_005228.5

p.A597A

c.1791A>G

1 paper

NM_005228.5

p.A597A

c.1791A>T

1 paper

NM_005228.5

p.V599I

c.1795G>A

1 paper

NM_005228.5

p.A597G

c.1790C>G

1 paper

NM_005228.5

p.V599D

c.1796T>A