Varaico: Literature-Extracted Genetic Variants

Gene:LIPT1
Variant:p.S36*

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.S36*
c.107C>G
Surrounding Variants
1 paper
NM_145199.3
p.S36*
c.107C>A
1 paper
NM_145199.3
p.N44S
c.131A>G
1 paper
NM_145199.3
p.P20R
c.59C>G
1 paper
NM_145199.3
p.K60delFs
c.180delA
9 papers
NM_145199.3
p.S71F
c.212C>T
1 paper
NM_145199.3
p.Q82*
c.244C>T
4 papers
NM_145199.3
p.R98G
c.292C>G
2 papers
NM_145199.3
p.R98W
c.292C>T
1 paper
NM_145199.3
p.S101N
c.302G>A
2 papers
NM_145199.3
p.V106I
c.316G>A
1 paper
NM_145199.3
p.Y107Y
c.321C>T
5 papers
NM_145199.3
p.K121delFs
c.361delA
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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."