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

2 papers

NM_005228.5

p.S22R

c.64A>C

Surrounding Variants

2 papers

NM_005228.5

p.S22G

c.64A>G

1 paper

NM_005228.5

p.S22delFs

c.65_66delGT

2 papers

NM_005228.5

p.S22N

c.65G>A

1 paper

NM_005228.5

p.A21A

c.63G>A

1 paper

NM_005228.5

p.A21A

c.63G>T

1 paper

NM_005228.5

p.A21G

c.62C>G

3 papers

NM_005228.5

p.S22R

c.66T>A

2 papers

NM_005228.5

p.S22R

c.66T>G

1 paper

NM_005228.5

p.S22_R23insFs

c.66_67insG

1 paper

NM_005228.5

p.R23del1

c.67_68delCGG

1 paper

NM_005228.5

p.R23_A24insFs

c.69_70insG

5 papers

NM_005228.5

p.R23W

c.67C>T