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.D262_C264delFs

c.786_790del5

Surrounding Variants

1 paper

NM_005228.5

p.D262V

c.785A>T

2 papers

NM_005228.5

p.D262N

c.784G>A

1 paper

NM_005228.5

p.D262insFs

c.784_785insC

84 papers

NM_005228.5

p.T263P

c.787A>C

2 papers

NM_005228.5

p.T263A

c.787A>G

1 paper

NM_005228.5

p.T263S

c.787A>T

1 paper

NM_005228.5

p.K261K

c.783G>A

4 papers

NM_005228.5

p.K261N

c.783G>C

5 papers

NM_005228.5

p.K261N

c.783G>T

1 paper

NM_005228.5

p.K261R

c.782A>G

1 paper

NM_005228.5

p.T263N

c.788C>A

1 paper

NM_005228.5

p.T263S

c.788C>G