Varaico: Literature-Extracted Genetic Variants

BBOX1

48 papers

RefSeq Summary

This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential f...

Pfam Domains

GBBH-like_Naa 9–92UCSCGamma-butyrobetaine hydroxylase-like, N-terminal

TauDaa 108–366UCSCTaurine catabolism dioxygenase TauD, TfdA family

Gene Aliases

HGNC Name

gamma-butyrobetaine hydroxylase 1

HGNC Alias Symbols

gamma-BBH; G-BBH; BBH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003986.3

p.L379*

c.1136T>A

Surrounding Variants

1 paper

NM_003986.3

p.L379*

c.1136T>G

1 paper

NM_003986.3

p.S359S

c.1077C>T

2 papers

NM_003986.3

p.R350H

c.1049G>A

1 paper

NM_003986.3

p.H347Y

c.1039C>T

1 paper

NM_003986.3

p.I338N

c.1013T>A

1 paper

NM_003986.3

p.V318D

c.953T>A

1 paper

NM_003986.3

p.N293D

c.877A>G

1 paper

NM_003986.3

p.N290S

c.869A>G

1 paper

NM_003986.3

p.R288H

c.863G>A

1 paper

NM_003986.3

p.K283N

c.849A>C

1 paper

NM_003986.3

p.K283N

c.849A>T

1 paper

NM_003986.3

p.D282E

c.846T>A