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.R255G

c.763C>G

Surrounding Variants

2 papers

NM_005228.5

p.R255R

c.763C>A

5 papers

NM_005228.5

p.R255*

c.763C>T

2 papers

NM_005228.5

p.F254L

c.762C>A

2 papers

NM_005228.5

p.F254L

c.762C>G

1 paper

NM_005228.5

p.F254F

c.762C>T

11 papers

NM_005228.5

p.R255Q

c.764G>A

2 papers

NM_005228.5

p.R255L

c.764G>T

2 papers

NM_005228.5

p.D256_E257ins0

c.768_770dupCGA

1 paper

NM_005228.5

p.F254C

c.761T>G

1 paper

NM_005228.5

p.D256N

c.766G>A

1 paper

NM_005228.5

p.D256H

c.766G>C

14 papers

NM_005228.5

p.D256Y

c.766G>T