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

4 papers

NM_005228.5

p.A597P

c.1789G>C

Surrounding Variants

7 papers

NM_005228.5

p.A597T

c.1789G>A

2 papers

NM_005228.5

p.A597S

c.1789G>T

1 paper

NM_005228.5

p.A597G

c.1790C>G

6 papers

NM_005228.5

p.P596P

c.1788G>A

1 paper

NM_005228.5

p.P596_A597ins1

c.1788_1789insGAA

2 papers

NM_005228.5

p.A597A

c.1791A>G

1 paper

NM_005228.5

p.A597A

c.1791A>T

12 papers

NM_005228.5

p.P596R

c.1787C>G

57 papers

NM_005228.5

p.P596L

c.1787C>T

1 paper

NM_005228.5

p.P596A

c.1786C>G

12 papers

NM_005228.5

p.P596S

c.1786C>T

4 papers

NM_005228.5

p.G598R

c.1792G>A