Varaico: Literature-Extracted Genetic Variants

Gene:MNS1
Variant:p.R242*

MNS1

65 papers

RefSeq Summary

This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may...

Pfam Domains

TPHaa 114–465UCSCTrichohyalin-plectin-homology domain

Gene Aliases

HGNC Name

meiosis specific nuclear structural 1

HGNC Alias Symbols

FLJ11222; SPATA40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_018365.4
p.R242*
c.724C>T
Surrounding Variants
1 paper
NM_018365.4
p.R242Q
c.725G>A
1 paper
NM_018365.4
p.M241L
c.721A>T
1 paper
NM_018365.4
p.Y244N
c.730T>A
1 paper
NM_018365.4
p.N239insFs
c.715dupA
1 paper
NM_018365.4
p.K234N
c.702G>T
1 paper
NM_018365.4
p.K234N
c.702G>C
1 paper
NM_018365.4
p.Q232*
c.694C>T
1 paper
NM_018365.4
p.A253A
c.759T>G
2 papers
NM_018365.4
p.K258_K259delFs
c.774_775delTC
2 papers
NM_018365.4
p.R268K
c.803G>A
1 paper
NM_018365.4
p.I270T
c.809T>C
1 paper
NM_018365.4
p.Q278*
c.832C>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."