Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.K180delFs

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
10 papers
NM_004531.5
p.K180delFs
c.539_540delTT
Surrounding Variants
7 papers
NM_004531.5
p.K180fs
c.538_539fs
2 papers
NM_004531.5
p.K180fs
c.538_539fs
1 paper
NM_004531.5
p.G178_N179delFs
c.533_536del4
2 papers
NM_004531.5
p.G178fs
c.532_533fs
1 paper
NM_004531.5
p.G178fs
c.532_533fs
1 paper
NM_004531.5
p.K177N
c.531A>C
1 paper
NM_004531.5
p.T175insFs
c.524_525insAC
1 paper
NM_004531.5
p.A185_N187Fs
c.554_559delinsTGTGFs
4 papers
NM_004531.5
p.*189Y
c.567A>T
4 papers
NM_004531.5
p.*189Y
c.567A>C
6 papers
NM_004531.5
p.E168K
c.502G>A
1 paper
NM_004531.5
p.E168fs
c.502_503fs
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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."