Varaico: Literature-Extracted Genetic Variants

Gene:LIPT1
Variant:p.T172A

LIPT1

55 papers

RefSeq Summary

The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the pro...

Pfam Domains

LplA-B_cataa 40–236UCSCLipoyl protein ligase A/B catalytic domain

Gene Aliases

HGNC Name

lipoyltransferase 1

HGNC Alias Symbols

MGC12290; MGC13378

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145199.3
p.T172A
c.514A>G
Surrounding Variants
1 paper
NM_145199.3
p.H177R
c.530A>G
4 papers
NM_145199.3
p.T179A
c.535A>G
4 papers
NM_145199.3
p.L180S
c.539T>C
1 paper
NM_145199.3
p.T187M
c.560C>T
1 paper
NM_145199.3
p.L156R
c.467T>G
1 paper
NM_145199.3
p.L189L
c.565T>C
1 paper
NM_145199.3
p.D153H
c.457G>C
1 paper
NM_145199.3
p.S191insFs
c.572_573ins4
1 paper
NM_145199.3
p.Q198K
c.592C>A
1 paper
NM_145199.3
p.S202R
c.604A>C
1 paper
NM_145199.3
p.S202R
c.606C>A
1 paper
NM_145199.3
p.S202R
c.606C>G
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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."