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.D739D

c.2217C>T

Surrounding Variants

1 paper

NM_178150.3

p.A740S

c.2218G>T

1 paper

NM_032807.5

p.A791G

c.2372C>G

1 paper

NM_178150.3

p.K741E

c.2221A>G

1 paper

NM_178150.3

p.K741R

c.2222A>G

1 paper

NM_178150.3

p.G742E

c.2225G>A

1 paper

NM_178150.3

p.L746M

c.2236T>A

1 paper

NM_178150.3

p.R749W

c.2245C>T

1 paper

NM_178150.3

p.N751N

c.2253C>T

1 paper

NM_178150.3

p.N753N

c.2259C>T

2 papers

NM_178150.3

p.V754M

c.2260G>A

1 paper

NM_178150.3

p.V754L

c.2260G>C

1 paper

NM_178150.3

p.V754L

c.2260G>T