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.S108N

c.323G>A

Surrounding Variants

1 paper

NM_178150.3

p.S108S

c.324T>C

1 paper

NM_178150.3

p.G107G

c.321C>T

1 paper

NM_178150.3

p.G107delFs

c.321delC

1 paper

NM_178150.3

p.G110E

c.329G>A

1 paper

NM_178150.3

p.G110G

c.330G>A

1 paper

NM_178150.3

p.Q105H

c.315G>T

1 paper

NM_178150.3

p.Q105R

c.314A>G

1 paper

NM_178150.3

p.Q105*

c.313C>T

1 paper

NM_178150.3

p.S113L

c.338C>T

1 paper

NM_178150.3

p.S99S

c.297C>T

1 paper

NM_178150.3

p.A117A

c.351C>T

1 paper

NM_178150.3

p.E98V

c.293A>T