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.S431F

c.1292C>T

Surrounding Variants

2 papers

NM_178150.3

p.P430L

c.1289C>T

1 paper

NM_178150.3

p.V432V

c.1296C>T

1 paper

NM_178150.3

p.Q422R

c.1265A>G

1 paper

NM_178150.3

p.N418Y

c.1252A>T

1 paper

NM_178150.3

p.E417D

c.1251G>C

1 paper

NM_178150.3

p.E417D

c.1251G>T

1 paper

NM_178150.3

p.L413V

c.1237C>G

1 paper

NM_178150.3

p.L413L

c.1237C>T

1 paper

NM_178150.3

p.C412C

c.1236C>T

1 paper

NM_178150.3

p.I409T

c.1226T>C

1 paper

NM_178150.3

p.L441V

c.1321C>G

1 paper

NM_178150.3

p.T442K

c.1325C>A