Varaico: Literature-Extracted Genetic Variants

Gene:LIPT1
Variant:p.K121fs

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
5 papers
NM_145199.3
p.K121fs
c.361_362fs
Surrounding Variants
5 papers
NM_145199.3
p.K121delFs
c.361delA
2 papers
NM_145199.3
p.K123fs
c.367_368fs
2 papers
NM_145199.3
p.K123delFs
c.369delG
1 paper
NM_145199.3
p.Y124fs
c.370_371fs
1 paper
NM_145199.3
p.Y107Y
c.321C>T
2 papers
NM_145199.3
p.V106I
c.316G>A
1 paper
NM_145199.3
p.S101N
c.302G>A
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.D153H
c.457G>C
1 paper
NM_145199.3
p.L156R
c.467T>G
1 paper
NM_145199.3
p.Q82*
c.244C>T
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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."