Varaico: Literature-Extracted Genetic Variants

FBH1

62 papers

RefSeq Summary

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of...

Pfam Domains

F-box-likeaa 138–187UCSCF-box-like

UvrD-helicaseaa 367–618UCSCUvrD/REP helicase N-terminal domain

UvrD_Caa 722–879UCSCUvrD-like helicase C-terminal domain

Gene Aliases

HGNC Name

F-box DNA helicase 1

HGNC Previous Symbol

FBXO18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178150.3

p.I60I

c.180C>T

Surrounding Variants

1 paper

NM_178150.3

p.R58insFs

c.172dupA

2 papers

NM_178150.3

p.Q57E

c.169C>G

1 paper

NM_178150.3

p.F64F

c.192C>T

1 paper

NM_178150.3

p.G55*

c.163G>T

1 paper

NM_178150.3

p.A66A

c.198A>T

1 paper

NM_178150.3

p.G67G

c.201C>A

1 paper

NM_178150.3

p.Q69L

c.206A>T

1 paper

NM_178150.3

p.N73Y

c.217A>T

1 paper

NM_178150.3

p.D74G

c.221A>G

1 paper

NM_178150.3

p.M75T

c.224T>C

1 paper

NM_178150.3

p.M75I

c.225G>A

1 paper

NM_178150.3

p.M75I

c.225G>C