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.N468S

c.1403A>G

Surrounding Variants

1 paper

NM_005228.5

p.N468D

c.1402A>G

1 paper

NM_005228.5

p.N468K

c.1404T>A

1 paper

NM_005228.5

p.N468N

c.1404T>C

1 paper

NM_005228.5

p.N468K

c.1404T>G

1 paper

NM_005228.5

p.K467N

c.1401A>C

1 paper

NM_005228.5

p.K467N

c.1401A>T

1 paper

NM_005228.5

p.N468_L469del2

c.1402_1406del6

1 paper

NM_005228.5

p.L469V

c.1405T>G

21 papers

NM_005228.5

p.K467T

c.1400A>C

1 paper

NM_005228.5

p.K467I

c.1400A>T

1 paper

NM_005228.5

p.L469*

c.1406T>A

2 papers

NM_005228.5

p.L469S

c.1406T>C