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.T678T

c.2034G>A

Surrounding Variants

1 paper

NM_005228.5

p.T678T

c.2034G>C

1 paper

NM_005228.5

p.T678T

c.2034G>T

1 paper

NM_005228.5

p.L679_R680insAG

c.2035_2039ins6

1 paper

NM_005228.5

p.L679V

c.2035C>G

5 papers

NM_005228.5

p.T678M

c.2033C>T

1 paper

NM_005228.5

p.T678P

c.2032A>C

1 paper

NM_005228.5

p.L679P

c.2036T>C

1 paper

NM_005228.5

p.R680delFs

c.2038_2039delCG

2 papers

NM_005228.5

p.R680G

c.2038C>G

5 papers

NM_005228.5

p.R680W

c.2038C>T

9 papers

NM_005228.5

p.R677H

c.2030G>A

1 paper

NM_005228.5

p.R677L

c.2030G>T