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.A147T

c.439G>A

Surrounding Variants

1 paper

NM_178150.3

p.A147V

c.440C>T

1 paper

NM_178150.3

p.P148S

c.442C>T

1 paper

NM_178150.3

p.R149W

c.445C>T

1 paper

NM_178150.3

p.R149Q

c.446G>A

1 paper

NM_178150.3

p.H151R

c.452A>G

1 paper

NM_178150.3

p.G142R

c.424G>A

1 paper

NM_178150.3

p.G142R

c.424G>C

1 paper

NM_178150.3

p.L152L

c.454T>C

1 paper

NM_178150.3

p.L152S

c.455T>C

1 paper

NM_178150.3

p.L152F

c.456G>C

1 paper

NM_178150.3

p.L152F

c.456G>T

1 paper

NM_178150.3

p.W140L

c.419G>T