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

2 papers

NM_178150.3

p.T137P

c.409A>C

Surrounding Variants

1 paper

NM_178150.3

p.T137T

c.411C>T

1 paper

NM_178150.3

p.G136W

c.406G>T

1 paper

NM_178150.3

p.S138S

c.414C>T

1 paper

NM_178150.3

p.R139W

c.415C>T

1 paper

NM_178150.3

p.A134D

c.401C>A

1 paper

NM_178150.3

p.Q133H

c.399G>C

1 paper

NM_178150.3

p.Q133H

c.399G>T

1 paper

NM_178150.3

p.W140L

c.419G>T

1 paper

NM_178150.3

p.Q133*

c.397C>T

1 paper

NM_178150.3

p.G142R

c.424G>A

1 paper

NM_178150.3

p.G142R

c.424G>C

1 paper

NM_178150.3

p.S127S

c.381T>G