Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.V151M

MOCS2

83 papers

RefSeq Summary

Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by t...

Pfam Domains

ThiSaa 9–88UCSCThiS family
MoaEaa 49–161UCSCMoaE protein

Gene Aliases

HGNC Name

molybdenum cofactor synthesis 2

HGNC Alias Symbols

MOCO1; MOCS2A; MOCS2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004531.5
p.V151M
c.451G>A
Surrounding Variants
3 papers
NM_004531.5
p.A150del1
c.448_449delAGC
1 paper
NM_004531.5
p.E149_A150delFs
c.445_448del4
3 papers
NM_004531.5
p.T157_K159delins
c.471_477delinsG
5 papers
NM_004531.5
p.L158_K159del0
c.472_477del6
1 paper
NM_004531.5
p.S141L
c.422C>T
6 papers
NM_004531.5
p.S140F
c.419C>T
1 paper
NM_004531.5
p.V139M
c.415G>A
1 paper
NM_004531.5
p.A138V
c.413C>T
5 papers
NM_004531.5
p.W165R
c.493T>C
5 papers
NM_004531.5
p.W165R
c.493T>A
1 paper
NM_004531.5
p.K167delFs
c.501delC
4 papers
NM_004531.5
p.G126A
c.377G>C
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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."