Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.A99V

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
3 papers
NM_004531.5
p.A99V
c.296C>T
Surrounding Variants
1 paper
NM_004531.5
p.A99fs
c.295_296fs
1 paper
NM_004531.5
p.P97delFs
c.291delG
1 paper
NM_004531.5
p.K105_I106insFs
c.315_316insC
3 papers
NM_004531.5
p.K105fs
c.313_314fs
1 paper
NM_004531.5
p.K105delFs
c.314delT
1 paper
NM_004531.5
p.S89I
c.266G>T
1 paper
NM_004531.5
p.G84insFs
c.252dupG
3 papers
NM_004531.5
p.G84_K85insFs
c.252_253insC
2 papers
NM_004531.5
p.V116fs
c.346_347fs
1 paper
NM_004531.5
p.G76A
c.227G>C
6 papers
NM_004531.5
p.G76R
c.226G>C
6 papers
NM_004531.5
p.G76R
c.226G>A
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