Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.L23fs

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.L23fs
c.67_68fs
Surrounding Variants
1 paper
NM_176806.4
p.I85fs
c.253_254fs
1 paper
NM_176806.4
p.I85fs
c.253_254fs
1 paper
NM_176806.4
p.P84insFs
c.252dupC
2 papers
NM_004531.5
p.P22fs
c.64_65fs
1 paper
NM_004531.5
p.P22S
c.64C>T
1 paper
NM_004531.5
p.E25G
c.74A>G
1 paper
NM_004531.5
p.P22fs
c.64_65fs
1 paper
NM_004531.5
p.D26H
c.76G>C
1 paper
NM_004531.5
p.D26N
c.76G>A
1 paper
NM_004531.5
p.D26G
c.77A>G
1 paper
NM_004531.5
p.D26A
c.77A>C
2 papers
NM_176806.4
p.*89Q
c.265T>C
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