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.K122N

c.366G>T

Surrounding Variants

1 paper

NM_178150.3

p.K122N

c.366G>C

1 paper

NM_178150.3

p.R123W

c.367C>T

1 paper

NM_178150.3

p.S120F

c.359C>T

1 paper

NM_178150.3

p.P119L

c.356C>T

1 paper

NM_178150.3

p.S126A

c.376T>G

1 paper

NM_178150.3

p.P118P

c.354G>A

1 paper

NM_178150.3

p.A117A

c.351C>T

1 paper

NM_178150.3

p.S127S

c.381T>G

1 paper

NM_178150.3

p.S113L

c.338C>T

1 paper

NM_178150.3

p.Q133*

c.397C>T

1 paper

NM_178150.3

p.Q133H

c.399G>C

1 paper

NM_178150.3

p.Q133H

c.399G>T