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.V187L

c.559G>T

Surrounding Variants

1 paper

NM_178150.3

p.V187M

c.559G>A

1 paper

NM_178150.3

p.V187L

c.559G>C

1 paper

NM_178150.3

p.G188D

c.563G>A

1 paper

NM_178150.3

p.P189A

c.565C>G

1 paper

NM_178150.3

p.G185R

c.553G>A

1 paper

NM_178150.3

p.G185R

c.553G>C

1 paper

NM_178150.3

p.G185W

c.553G>T

1 paper

NM_178150.3

p.P189P

c.567T>C

1 paper

NM_178150.3

p.Q182H

c.546A>T

1 paper

NM_178150.3

p.Q182R

c.545A>G

1 paper

NM_178150.3

p.D181D

c.543C>T

2 papers

NM_178150.3

p.I192M

c.576T>G