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.T605A

c.1813A>G

Surrounding Variants

1 paper

NM_005228.5

p.T605P

c.1813A>C

1 paper

NM_005228.5

p.T605S

c.1813A>T

1 paper

NM_005228.5

p.T605insFs

c.1813dupA

1 paper

NM_005228.5

p.T605S

c.1814C>G

1 paper

NM_005228.5

p.T605I

c.1814C>T

1 paper

NM_005228.5

p.N604S

c.1811A>G

1 paper

NM_005228.5

p.N604I

c.1811A>T

1 paper

NM_005228.5

p.T605T

c.1815C>A

1 paper

NM_005228.5

p.T605T

c.1815C>T

4 papers

NM_005228.5

p.N604D

c.1810A>G

1 paper

NM_005228.5

p.L606V

c.1816C>G

2 papers

NM_005228.5

p.L606P

c.1817T>C