Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIPT2

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 37 variants

6 papers

chr11:74493327 A>C

NM_001144869.3

p.L126R

c.377T>G

LplA-B_cat

Exome: 0.0% (AC=414, hom=0)Genome: 0.0% (AC=29, hom=0)32 overlapping SVs

5 papers

chr11:74493615 A>G

NM_001144869.3

p.L30P

c.89T>C

LplA-B_cat

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=8, hom=0)32 overlapping SVs

4 papers

chr11:74492263 T>A

NM_001144869.3

p.T190S

c.568A>T

LplA-B_cat

Exome: 61.4% (AC=858739, hom=265550)Genome: 55.2% (AC=83900, hom=23913)32 overlapping SVs

2 papers

chr11:74493390 A>C

NM_001144869.3

p.L105R

c.314T>G

LplA-B_cat

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)32 overlapping SVs

1 paper

chr11:74493682 A>G

NM_001144869.3

p.L8L

c.22T>C

Exome: 99.5% (AC=1239248, hom=616863)Genome: 94.0% (AC=143107, hom=67899)32 overlapping SVs

1 paper

chr11:74493666 C>G

NM_001144869.3

p.R13P

c.38G>C

Exome: 0.0% (AC=6, hom=0)Genome: n/a32 overlapping SVs

1 paper

chr11:74493611 C>A

NM_001144869.3

p.Q31H

c.93G>T

LplA-B_cat

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)32 overlapping SVs

1 paper

chr11:74493611 C>G

NM_001144869.3

p.Q31H

c.93G>C

LplA-B_cat

Exome: 0.0% (AC=4, hom=0)Genome: n/a32 overlapping SVs

1 paper

chr11:74493589 G>A

NM_001144869.3

p.P39S

c.115C>T

LplA-B_cat

Exome: 0.0% (AC=221, hom=2)Genome: 0.0% (AC=13, hom=0)32 overlapping SVs

1 paper

chr11:74493588 G>T

NM_001144869.3

p.P39Q

c.116C>A

LplA-B_cat

Exome: 0.0% (AC=0, hom=0)Genome: n/a32 overlapping SVs

1 paper

chr11:74493555 C>T

NM_001144869.3

p.C50Y

c.149G>A

LplA-B_cat

Exome: 0.0% (AC=1, hom=0)Genome: n/a32 overlapping SVs

1 paper

chr11:74493550 G>A

NM_001144869.3

p.P52S

c.154C>T

LplA-B_cat

Exome: 0.0% (AC=2, hom=0)Genome: n/a32 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."