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.P272T

c.814C>A

Surrounding Variants

1 paper

NM_005228.5

p.P272S

c.814C>T

1 paper

NM_005228.5

p.P272H

c.815C>A

2 papers

NM_005228.5

p.P272L

c.815C>T

1 paper

NM_005228.5

p.N271N

c.813C>T

1 paper

NM_005228.5

p.P272delFs

c.814delC

1 paper

NM_005228.5

p.P272P

c.816C>T

2 papers

NM_005228.5

p.T273P

c.817A>C

7 papers

NM_005228.5

p.T273A

c.817A>G

1 paper

NM_005228.5

p.T273S

c.817A>T

1 paper

NM_005228.5

p.T273N

c.818C>A

2 papers

NM_005228.5

p.T273S

c.818C>G

1 paper

NM_005228.5

p.Y270Y

c.810C>T