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.V711M

c.2131G>A

Surrounding Variants

1 paper

NM_178150.3

p.V711A

c.2132T>C

1 paper

NM_178150.3

p.V711V

c.2133G>A

1 paper

NM_178150.3

p.G712E

c.2135G>A

1 paper

NM_178150.3

p.I715I

c.2145C>T

1 paper

NM_178150.3

p.G705A

c.2114G>C

1 paper

NM_178150.3

p.G705C

c.2113G>T

1 paper

NM_178150.3

p.R703Q

c.2108G>A

2 papers

NM_178150.3

p.R703W

c.2107C>T

1 paper

NM_178150.3

p.C719W

c.2157C>G

1 paper

NM_178150.3

p.S701N

c.2102G>A

1 paper

NM_178150.3

p.V722I

c.2164G>A

1 paper

NM_178150.3

p.K725delFs

c.2174delA