Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.T50A

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
2 papers
NM_004531.5
p.T50A
c.148A>G
Surrounding Variants
1 paper
NM_004531.5
p.V56fs
c.166_167fs
1 paper
NM_004531.5
p.D57fs
c.169_170fs
1 paper
NM_004531.5
p.D57Y
c.169G>T
1 paper
NM_004531.5
p.V56delFs
c.168delT
1 paper
NM_004531.5
p.V39D
c.116T>A
1 paper
NM_004531.5
p.M36I
c.108G>T
1 paper
NM_004531.5
p.M36I
c.108G>C
1 paper
NM_004531.5
p.M36I
c.108G>A
1 paper
NM_004531.5
p.S65S
c.195T>C
5 papers
NM_004531.5
p.L73P
c.218T>C
6 papers
NM_004531.5
p.G76R
c.226G>A
6 papers
NM_004531.5
p.G76R
c.226G>C
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