Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.L17*

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.L17*
c.50T>A
Surrounding Variants
1 paper
NM_004531.5
p.S8_T15del8
c.22_44del24
1 paper
NM_004531.5
p.T15T
c.45G>A
1 paper
NM_004531.5
p.T15M
c.44C>T
3 papers
NM_176806.4
p.I82F
c.244A>T
NM_004531.5
p.L19F
c.57A>T
2 papers
NM_004531.5
p.L19F
c.57A>C
1 paper
NM_176806.4
p.G76R
c.226G>C
1 paper
NM_176806.4
p.G76R
c.226G>A
1 paper
NM_004531.5
p.P22S
c.64C>T
1 paper
NM_004531.5
p.P22fs
c.64_65fs
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."