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

93 papers

NM_005228.5

p.S492R

c.1476C>G

Surrounding Variants

92 papers

NM_005228.5

p.S492R

c.1476C>A

1 paper

NM_005228.5

p.S492S

c.1476C>T

1 paper

NM_005228.5

p.N493D

c.1477A>G

2 papers

NM_005228.5

p.S492N

c.1475G>A

93 papers

NM_005228.5

p.S492R

c.1474A>C

2 papers

NM_005228.5

p.N493S

c.1478A>G

1 paper

NM_005228.5

p.S492G

c.1474A>G

2 papers

NM_005228.5

p.N493I

c.1478A>T

1 paper

NM_005228.5

p.S492C

c.1474A>T

19 papers

NM_005228.5

p.I491M

c.1473A>G

1 paper

NM_005228.5

p.N493K

c.1479C>A

1 paper

NM_005228.5

p.N493K

c.1479C>G