Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.M1delFs

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
5 papers
NM_004531.5
p.M1delFs
c.2delA
Surrounding Variants
5 papers
NM_004531.5
p.M1I
c.3G>T
1 paper
NM_004531.5
p.M1fs
c.1_2fs
5 papers
NM_004531.5
p.M1I
c.3G>C
12 papers
NM_004531.5
p.M1I
c.3G>A
1 paper
NM_004531.5
p.S2L
c.5C>T
3 papers
NM_004531.5
p.S3_E5del0
c.9_14del6
1 paper
NM_004531.5
p.S3_E5delFs
c.8_15del8
1 paper
NM_176806.4
p.F57fs
c.169_170fs
1 paper
NM_176806.4
p.I56delFs
c.168delT
1 paper
NM_004531.5
p.S9L
c.26C>T
1 paper
NM_176806.4
p.L73P
c.218T>C
2 papers
NM_176806.4
p.Q74*
c.220C>T
NM_004531.5
p.F11F
c.33C>T
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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."