Varaico: Literature-Extracted Genetic Variants

Gene:LIPT1
Variant:p.K335T

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.K335T
c.1004A>C
Surrounding Variants
2 papers
NM_145199.3
p.L327*
c.980T>G
8 papers
NM_145199.3
p.S292*
c.875C>A
9 papers
NM_145199.3
p.S292*
c.875C>G
2 papers
NM_145199.3
p.W269*
c.806G>A
1 paper
NM_145199.3
p.W269L
c.806G>T
1 paper
NM_145199.3
p.L255P
c.764T>C
1 paper
NM_145199.3
p.L255delFs
c.764_765delTG
1 paper
NM_145199.3
p.A237A
c.711T>C
1 paper
NM_145199.3
p.S202R
c.606C>A
1 paper
NM_145199.3
p.S202R
c.606C>G
1 paper
NM_145199.3
p.S202R
c.604A>C
1 paper
NM_145199.3
p.Q198K
c.592C>A
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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."