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.V61A

c.182T>C

Surrounding Variants

1 paper

NM_005228.5

p.V61D

c.182T>A

1 paper

NM_005228.5

p.V61delins

c.182_183delinsTG

2 papers

NM_005228.5

p.V61I

c.181G>A

1 paper

NM_005228.5

p.V61L

c.181G>C

1 paper

NM_005228.5

p.V61F

c.181G>T

2 papers

NM_005228.5

p.L62V

c.184C>G

1 paper

NM_005228.5

p.V60V

c.180G>T

2 papers

NM_005228.5

p.V60_V61delins

c.180_181delinsAA

1 paper

NM_005228.5

p.V60A

c.179T>C

90 papers

NM_005228.5

p.L62R

c.185T>G

1 paper

NM_005228.5

p.V60G

c.179T>G

2 papers

NM_005228.5

p.L62insFs

c.185_186insA