Varaico: Literature-Extracted Genetic Variants

Gene:LIPT2
Variant:p.T190S

LIPT2

41 papers

RefSeq Summary

This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. ...

Pfam Domains

LplA-B_cataa 15–217UCSCLipoyl protein ligase A/B catalytic domain

Gene Aliases

HGNC Name

lipoyl(octanoyl) transferase 2

HGNC Previous Name

lipoyl(octanoyl) transferase 2 (putative)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001144869.3
p.T190S
c.568A>T
Surrounding Variants
1 paper
NM_001144869.3
p.G191R
c.571G>C
1 paper
NM_001144869.3
p.R201_H202insAC
c.601_605ins6
1 paper
NM_001144869.3
p.E207K
c.619G>A
1 paper
NM_001144869.3
p.E207V
c.620A>T
1 paper
NM_001144869.3
p.*232*
c.695G>A
1 paper
NM_001144869.3
p.C153R
c.457T>C
1 paper
NM_001144869.3
p.P140S
c.418C>T
1 paper
NM_001144869.3
p.Q133E
c.397C>G
6 papers
NM_001144869.3
p.L126R
c.377T>G
1 paper
NM_001144869.3
p.V116_S118del0
c.346_354del9
1 paper
NM_001144869.3
p.V116L
c.346G>T
1 paper
NM_001144869.3
p.V116L
c.346G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."