Varaico: Literature-Extracted Genetic Variants

TMLHE

54 papers

RefSeq Summary

This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids ac...

Pfam Domains

GBBH-like_Naa 37–134UCSCGamma-butyrobetaine hydroxylase-like, N-terminal

TauDaa 147–404UCSCTaurine catabolism dioxygenase TauD, TfdA family

Gene Aliases

HGNC Name

trimethyllysine hydroxylase, epsilon

HGNC Alias Symbols

TMLH; FLJ10727; BBOX2; XAP130

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018196.4

p.M1del1

c.1_2delCAT

Surrounding Variants

2 papers

NM_018196.4

p.M1I

c.3G>T

1 paper

NM_018196.4

p.M1insFs

c.2dupT

2 papers

NM_018196.4

p.M1I

c.3G>C

2 papers

NM_018196.4

p.M1I

c.3G>A

1 paper

NM_018196.4

p.M1T

c.2T>C

1 paper

NM_018196.4

p.M1L

c.1A>T

1 paper

NM_018196.4

p.M1L

c.1A>C

1 paper

NM_018196.4

p.R5_L6ins0

c.14_16dupGAT

1 paper

NM_018196.4

p.L6*

c.17T>A

1 paper

NM_018196.4

p.H10H

c.30C>T

1 paper

NM_018196.4

p.S11insFs

c.31dupA

1 paper

NM_018196.4

p.K32R

c.95A>G