Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTARC2

Variant:p.D159G

MTARC2

23 papers

RefSeq Summary

The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type...

Pfam Domains

MOSC_Naa 54–175UCSCMOSC N-terminal beta barrel domain

MOSCaa 201–332UCSCMOSC domain

Gene Aliases

HGNC Name

mitochondrial amidoxime reducing component 2

HGNC Previous Symbols

MOSC2; MARC2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:220761687 A>G

NM_017898.5

p.D159G

c.476A>G

MOSC_N

exact variant not in gnomAD95 overlapping SVs

Surrounding Variants

1 paper

chr1:220761704 G>A

NM_017898.5

p.A165T

c.493G>A

MOSC_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a95 overlapping SVs

1 paper

chr1:220761774 G>C

NM_017898.5

p.G188A

c.563G>C

exact variant not in gnomAD95 overlapping SVs

3 papers

chr1:220763030 G>A

NM_017898.5

p.G244S

c.730G>A

MOSC

Exome: 0.8% (AC=11771, hom=199)Genome: 1.3% (AC=2040, hom=33)96 overlapping SVs

2 papers

chr1:220763035 T>G

NM_017898.5

p.C245W

c.735T>G

MOSC

Exome: 0.0% (AC=4, hom=0)Genome: n/a96 overlapping SVs

1 paper

chr1:220755093 C>T

NM_017898.5

p.P140L

c.419C>T

MOSC_N

exact variant not in gnomAD94 overlapping SVs

1 paper

chr1:220755008 G>A

NM_017898.5

p.V112M

c.334G>A

MOSC_N

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=6, hom=0)94 overlapping SVs

1 paper

chr1:220755008 G>C

NM_017898.5

p.V112L

c.334G>C

MOSC_N

exact variant not in gnomAD94 overlapping SVs

1 paper

chr1:220755008 G>T

NM_017898.5

p.V112L

c.334G>T

MOSC_N

Exome: 0.0% (AC=4, hom=0)Genome: n/a94 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."