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.V458V

c.1374G>T

Surrounding Variants

1 paper

NM_178150.3

p.Q457*

c.1369C>T

1 paper

NM_178150.3

p.L456L

c.1368C>G

2 papers

NM_178150.3

p.L456L

c.1368C>T

1 paper

NM_178150.3

p.I461S

c.1382T>G

1 paper

NM_178150.3

p.P455R

c.1364C>G

1 paper

NM_178150.3

p.A465A

c.1395C>T

1 paper

NM_178150.3

p.G466S

c.1396G>A

1 paper

NM_178150.3

p.N450K

c.1350T>A

1 paper

NM_178150.3

p.N450K

c.1350T>G

1 paper

NM_178150.3

p.N450Y

c.1348A>T

1 paper

NM_178150.3

p.L449L

c.1347G>A

1 paper

NM_178150.3

p.E444Q

c.1330G>C