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.K469K

c.1407G>A

Surrounding Variants

1 paper

NM_178150.3

p.K469N

c.1407G>C

1 paper

NM_178150.3

p.K469N

c.1407G>T

1 paper

NM_178150.3

p.K469*

c.1405A>T

1 paper

NM_178150.3

p.T470T

c.1410C>T

1 paper

NM_178150.3

p.G468W

c.1402G>T

1 paper

NM_178150.3

p.V474A

c.1421T>C

1 paper

NM_178150.3

p.V474V

c.1422C>G

1 paper

NM_178150.3

p.K475N

c.1425G>C

1 paper

NM_178150.3

p.K475N

c.1425G>T

1 paper

NM_178150.3

p.E478D

c.1434G>C

1 paper

NM_178150.3

p.E478D

c.1434G>T

1 paper

NM_178150.3

p.K479Q

c.1435A>C