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.V239M

c.715G>A

Surrounding Variants

1 paper

NM_178150.3

p.L236M

c.706C>A

1 paper

NM_178150.3

p.L236L

c.706C>T

1 paper

NM_178150.3

p.L242F

c.726G>C

1 paper

NM_178150.3

p.L242F

c.726G>T

1 paper

NM_178150.3

p.W243*

c.728G>A

1 paper

NM_178150.3

p.W243*

c.729G>A

1 paper

NM_178150.3

p.E245K

c.733G>A

1 paper

NM_178150.3

p.E245*

c.733G>T

1 paper

NM_178150.3

p.L232L

c.696C>T

1 paper

NM_178150.3

p.D249N

c.745G>A

1 paper

NM_178150.3

p.V229L

c.685G>C

1 paper

NM_178150.3

p.V229L

c.685G>T