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.L469F

c.1407G>T

Surrounding Variants

1 paper

NM_005228.5

p.L469L

c.1407G>A

1 paper

NM_005228.5

p.L469F

c.1407G>C

2 papers

NM_005228.5

p.C470S

c.1408T>A

1 paper

NM_005228.5

p.L469*

c.1406T>A

2 papers

NM_005228.5

p.L469S

c.1406T>C

2 papers

NM_005228.5

p.L469W

c.1406T>G

1 paper

NM_005228.5

p.C470Y

c.1409G>A

2 papers

NM_005228.5

p.C470S

c.1409G>C

1 paper

NM_005228.5

p.L469V

c.1405T>G

1 paper

NM_005228.5

p.Y471insFs

c.1411_1412insT

2 papers

NM_005228.5

p.C470C

c.1410C>T

1 paper

NM_005228.5

p.N468K

c.1404T>A