Varaico: Literature-Extracted Genetic Variants

Gene:MTARC2
Variant:p.S7F

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017898.5
p.S7F
c.20C>T
Surrounding Variants
1 paper
NM_017898.5
p.A3_S5del0
c.9_14del6
1 paper
NM_017898.5
p.M1delFs
c.2delT
1 paper
NM_017898.5
p.C68_P72delFs
c.204_214del11
1 paper
NM_017898.5
p.V73A
c.218T>C
1 paper
NM_017898.5
p.N87N
c.261C>T
1 paper
NM_017898.5
p.R89L
c.266G>T
1 paper
NM_017898.5
p.V112M
c.334G>A
1 paper
NM_017898.5
p.V112L
c.334G>C
1 paper
NM_017898.5
p.V112L
c.334G>T
1 paper
NM_017898.5
p.P140L
c.419C>T
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