Varaico: Literature-Extracted Genetic Variants

Gene:LIPT2
Variant:p.G77S

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
1 paper
NM_001144869.3
p.G77S
c.229G>A
Surrounding Variants
1 paper
NM_001144869.3
p.R74P
c.221G>C
1 paper
NM_001144869.3
p.A71V
c.212C>T
1 paper
NM_001144869.3
p.G86S
c.256G>A
1 paper
NM_001144869.3
p.P67_E68insFs
c.201_202insAC
1 paper
NM_001144869.3
p.Q96H
c.288G>T
1 paper
NM_001144869.3
p.Q96H
c.288G>C
1 paper
NM_001144869.3
p.C99delFs
c.295delA
1 paper
NM_001144869.3
p.H100L
c.299A>T
1 paper
NM_001144869.3
p.A53V
c.158C>T
1 paper
NM_001144869.3
p.P52S
c.154C>T
1 paper
NM_001144869.3
p.C50Y
c.149G>A
1 paper
NM_001144869.3
p.D104Y
c.310G>T
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