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.A653P

c.1957G>C

Surrounding Variants

1 paper

NM_005228.5

p.A653T

c.1957G>A

1 paper

NM_005228.5

p.L654delFs

c.1960delC

1 paper

NM_005228.5

p.A653V

c.1958C>T

1 paper

NM_005228.5

p.G652G

c.1956G>T

1 paper

NM_005228.5

p.G652E

c.1955G>A

3 papers

NM_005228.5

p.G652V

c.1955G>T

1 paper

NM_005228.5

p.L654I

c.1960C>A

4 papers

NM_005228.5

p.G652R

c.1954G>A

3 papers

NM_005228.5

p.G652R

c.1954G>C

2 papers

NM_005228.5

p.G652W

c.1954G>T

1 paper

NM_005228.5

p.V651V

c.1953G>A

1 paper

NM_005228.5

p.L654P

c.1961T>C