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.V974A

c.2921T>C

Surrounding Variants

1 paper

NM_178150.3

p.P973S

c.2917C>T

1 paper

NM_178150.3

p.I972I

c.2916C>T

1 paper

NM_178150.3

p.T976T

c.2928C>A

1 paper

NM_178150.3

p.V977I

c.2929G>A

1 paper

NM_178150.3

p.V977V

c.2931C>G

1 paper

NM_178150.3

p.M980V

c.2938A>G

1 paper

NM_178150.3

p.K981N

c.2943G>C

1 paper

NM_178150.3

p.K981N

c.2943G>T

1 paper

NM_178150.3

p.G966*

c.2896G>T

1 paper

NM_178150.3

p.V965V

c.2895G>A

1 paper

NM_178150.3

p.V965M

c.2893G>A

1 paper

NM_178150.3

p.P984L

c.2951C>T