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.S116A

c.346T>G

Surrounding Variants

5 papers

NM_005228.5

p.S116F

c.347C>T

3 papers

NM_005228.5

p.N115K

c.345T>A

3 papers

NM_005228.5

p.N115K

c.345T>G

1 paper

NM_005228.5

p.S116del1

c.346_347delTCC

2 papers

NM_005228.5

p.N115T

c.344A>C

1 paper

NM_005228.5

p.N115S

c.344A>G

2 papers

NM_005228.5

p.N115I

c.344A>T

1 paper

NM_005228.5

p.S116S

c.348C>G

2 papers

NM_005228.5

p.S116S

c.348C>T

1 paper

NM_005228.5

p.N115_Y117delFs

c.344_351del8

4 papers

NM_005228.5

p.Y117C

c.350A>G

1 paper

NM_005228.5

p.Y117F

c.350A>T