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.R494G

c.1480A>G

Surrounding Variants

1 paper

NM_005228.5

p.R494insFs

c.1480_1481insC

1 paper

NM_005228.5

p.R494*

c.1480A>T

1 paper

NM_005228.5

p.R494_G495delFs

c.1481_1485del5

1 paper

NM_005228.5

p.N493K

c.1479C>A

1 paper

NM_005228.5

p.N493K

c.1479C>G

1 paper

NM_005228.5

p.R494K

c.1481G>A

2 papers

NM_005228.5

p.R494T

c.1481G>C

1 paper

NM_005228.5

p.R494I

c.1481G>T

1 paper

NM_005228.5

p.R494S

c.1482A>C

2 papers

NM_005228.5

p.N493S

c.1478A>G

2 papers

NM_005228.5

p.N493I

c.1478A>T

1 paper

NM_005228.5

p.R494S

c.1482A>T