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.R172Q

c.515G>A

Surrounding Variants

1 paper

NM_178150.3

p.R172W

c.514C>T

1 paper

NM_178150.3

p.T170T

c.510G>A

1 paper

NM_178150.3

p.A175E

c.524C>A

1 paper

NM_178150.3

p.E167G

c.500A>G

1 paper

NM_178150.3

p.A166T

c.496G>A

1 paper

NM_178150.3

p.E165D

c.495A>T

1 paper

NM_178150.3

p.Q164*

c.490C>T

1 paper

NM_178150.3

p.D181D

c.543C>T

1 paper

NM_178150.3

p.Q182R

c.545A>G

1 paper

NM_178150.3

p.Q182H

c.546A>T

1 paper

NM_178150.3

p.R160S

c.480G>C

1 paper

NM_178150.3

p.R160S

c.480G>T