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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTARC2

Variant:p.K287*

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

chr1:220780214 A>T

NM_017898.5

p.K287*

c.859A>T

MOSC

exact variant not in gnomAD95 overlapping SVs

Surrounding Variants

1 paper

chr1:220780213 G>C

NM_017898.5

p.R286S

c.858G>C

MOSC

exact variant not in gnomAD95 overlapping SVs

1 paper

chr1:220780213 G>T

NM_017898.5

p.R286S

c.858G>T

MOSC

exact variant not in gnomAD95 overlapping SVs

1 paper

chr1:220780239 G>T

NM_017898.5

p.S295I

c.884G>T

MOSC

exact variant not in gnomAD95 overlapping SVs

2 papers

chr1:220781782 C>T

NM_017898.5

p.R297C

c.889C>T

MOSC

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=7, hom=0)96 overlapping SVs

1 paper

chr1:220781785 C>A

NM_017898.5

p.L298M

c.892C>A

MOSC

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)96 overlapping SVs

1 paper

chr1:220781851 G>A

NM_017898.5

p.E320K

c.958G>A

MOSC

exact variant not in gnomAD96 overlapping SVs

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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."