Varaico: Literature-Extracted Genetic Variants

Gene:LIPT2
Variant:p.L126R

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
6 papers
NM_001144869.3
p.L126R
c.377T>G
Surrounding Variants
1 paper
NM_001144869.3
p.Q133E
c.397C>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
1 paper
NM_001144869.3
p.V116I
c.346G>A
1 paper
NM_001144869.3
p.P140S
c.418C>T
1 paper
NM_001144869.3
p.G109D
c.326G>A
1 paper
NM_001144869.3
p.R107C
c.319C>T
2 papers
NM_001144869.3
p.L105R
c.314T>G
1 paper
NM_001144869.3
p.D104Y
c.310G>T
1 paper
NM_001144869.3
p.H100L
c.299A>T
1 paper
NM_001144869.3
p.C153R
c.457T>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."