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

16 papers

NM_005228.5

p.R670W

c.2008A>T

Surrounding Variants

12 papers

NM_005228.5

p.R669Q

c.2006G>A

1 paper

NM_005228.5

p.R670S

c.2010G>C

1 paper

NM_005228.5

p.R670S

c.2010G>T

10 papers

NM_005228.5

p.R669*

c.2005C>T

7 papers

NM_005228.5

p.R671C

c.2011C>T

1 paper

NM_005228.5

p.R669fs

c.2005_2006fs

3 papers

NM_005228.5

p.R671H

c.2012G>A

1 paper

NM_005228.5

p.M668I

c.2004G>C

1 paper

NM_005228.5

p.R671L

c.2012G>T

1 paper

NM_005228.5

p.R671R

c.2013C>G

1 paper

NM_005228.5

p.M668R

c.2003T>G

1 paper

NM_005228.5

p.M668L

c.2002A>C