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

1–12 of 572 variants

3 papers

NM_178150.3

p.Q948*

c.2842C>T

2 papers

NM_178150.3

p.Q57E

c.169C>G

2 papers

NM_178150.3

p.T137P

c.409A>C

2 papers

NM_178150.3

p.I192M

c.576T>G

2 papers

NM_178150.3

p.P430L

c.1289C>T

2 papers

NM_178150.3

p.S431F

c.1292C>T

2 papers

NM_178150.3

p.L456L

c.1368C>T

2 papers

NM_178150.3

p.A495T

c.1483G>A

2 papers

NM_178150.3

p.R703W

c.2107C>T

2 papers

NM_178150.3

p.V711M

c.2131G>A

2 papers

NM_178150.3

p.D739D

c.2217C>T

2 papers

NM_178150.3

p.V754M

c.2260G>A