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.C232C

c.696C>T

Surrounding Variants

2 papers

NM_005228.5

p.H233Y

c.697C>T

2 papers

NM_005228.5

p.C232S

c.695G>C

1 paper

NM_005228.5

p.H233P

c.698A>C

1 paper

NM_005228.5

p.H233R

c.698A>G

14 papers

NM_005228.5

p.H233L

c.698A>T

2 papers

NM_005228.5

p.C232S

c.694T>A

1 paper

NM_005228.5

p.C231C

c.693C>T

1 paper

NM_005228.5

p.H233H

c.699C>T

2 papers

NM_005228.5

p.C231Y

c.692G>A

3 papers

NM_005228.5

p.C231S

c.692G>C

1 paper

NM_005228.5

p.C231F

c.692G>T

3 papers

NM_005228.5

p.N234S

c.701A>G