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.L655_L656del1

c.1965_1967delCTT

Surrounding Variants

1 paper

NM_005228.5

p.L655V

c.1963C>G

4 papers

NM_005228.5

p.L655F

c.1963C>T

2 papers

NM_005228.5

p.L654L

c.1962C>A

1 paper

NM_005228.5

p.L655_L656del2

c.1963_1967del6

2 papers

NM_005228.5

p.L655H

c.1964T>A

1 paper

NM_005228.5

p.L655P

c.1964T>C

2 papers

NM_005228.5

p.L655R

c.1964T>G

1 paper

NM_005228.5

p.L654P

c.1961T>C

1 paper

NM_005228.5

p.L654I

c.1960C>A

1 paper

NM_005228.5

p.L656S

c.1967T>C

1 paper

NM_005228.5

p.A653V

c.1958C>T

1 paper

NM_005228.5

p.L657L

c.1969C>T