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.L951L

c.2853G>A

Surrounding Variants

1 paper

NM_178150.3

p.E950*

c.2848G>T

1 paper

NM_178150.3

p.S953S

c.2859C>T

1 paper

NM_178150.3

p.N954S

c.2861A>G

2 papers

NM_032807.5

p.V1006I

c.3016G>A

NM_178150.3

p.V955I

c.2863G>A

3 papers

NM_178150.3

p.Q948*

c.2842C>T

1 paper

NM_178150.3

p.K957E

c.2869A>G

1 paper

NM_178150.3

p.E944Q

c.2830G>C

1 paper

NM_178150.3

p.G959G

c.2877C>T

1 paper

NM_178150.3

p.V960V

c.2880G>T

1 paper

NM_178150.3

p.V961V

c.2883G>T

1 paper

NM_178150.3

p.R962C

c.2884C>T

1 paper

NM_178150.3

p.V965M

c.2893G>A