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

1–12 of 62 variants

2 papers

NM_003986.3

p.F110insFs

c.330dupT

2 papers

NM_003986.3

p.R350H

c.1049G>A

1 paper

NM_003986.3

p.C3S

c.7T>A

1 paper

NM_003986.3

p.C3S

c.8G>C

1 paper

NM_003986.3

p.H15Y

c.43C>T

1 paper

NM_003986.3

p.L20H

c.59T>A

1 paper

NM_003986.3

p.E26Q

c.76G>C

1 paper

NM_003986.3

p.D36N

c.106G>A

1 paper

NM_003986.3

p.R51Q

c.152G>A

1 paper

NM_003986.3

p.L53P

c.158T>C

1 paper

NM_003986.3

p.D59G

c.176A>G

1 paper

NM_003986.3

p.P79P

c.237C>T