Varaico: Literature-Extracted Genetic Variants

Gene:MNS1
Variant:p.E226_D227del1

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
2 papers
NM_018365.4
p.E226_D227del1
c.678_680delTCT
Surrounding Variants
1 paper
NM_018365.4
p.D227insFs
c.680dupA
1 paper
NM_018365.4
p.E225A
c.674A>C
1 paper
NM_018365.4
p.I219N
c.656T>A
1 paper
NM_018365.4
p.D217N
c.649G>A
2 papers
NM_018365.4
p.I216T
c.647T>C
1 paper
NM_018365.4
p.M215L
c.643A>T
1 paper
NM_018365.4
p.M215L
c.643A>C
1 paper
NM_018365.4
p.Y206delFs
c.616delA
2 papers
NM_018365.4
p.Q203*
c.607C>T
1 paper
NM_018365.4
p.K202fs
c.604_605fs
2 papers
NM_018365.4
p.K202insFs
c.605dupA
3 papers
NM_018365.4
p.K202delFs
c.605delT
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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."