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.G573E

c.1718G>A

Surrounding Variants

1 paper

NM_005228.5

p.G573A

c.1718G>C

1 paper

NM_005228.5

p.G573G

c.1719A>C

1 paper

NM_005228.5

p.G573G

c.1719A>T

3 papers

NM_005228.5

p.G573*

c.1717G>T

1 paper

NM_005228.5

p.R574R

c.1720C>A

1 paper

NM_005228.5

p.R574fs

c.1720_1721fs

5 papers

NM_005228.5

p.R574W

c.1720C>T

1 paper

NM_005228.5

p.T572R

c.1715C>G

2 papers

NM_005228.5

p.R574Q

c.1721G>A

1 paper

NM_005228.5

p.R574P

c.1721G>C

2 papers

NM_005228.5

p.R574L

c.1721G>T

1 paper

NM_005228.5

p.T572A

c.1714A>G