Varaico: Literature-Extracted Genetic Variants

Gene:MNS1

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
1–12 of 90 variants
9 papers
NM_018365.4
p.R242*
c.724C>T
3 papers
NM_018365.4
p.E136fs
c.406_407fs
3 papers
NM_018365.4
p.K202fs
c.604_605fs
3 papers
NM_018365.4
p.K202delFs
c.605delT
3 papers
NM_018365.4
p.E362*
c.1084G>T
2 papers
NM_018365.4
p.M1insFs
c.2dupT
2 papers
NM_018365.4
p.E136_R137delFs
c.407_410del4
2 papers
NM_018365.4
p.K201_K202insFs
c.603_604insG
2 papers
NM_018365.4
p.K202insFs
c.605dupA
2 papers
NM_018365.4
p.Q203*
c.607C>T
2 papers
NM_018365.4
p.I216T
c.647T>C
2 papers
NM_018365.4
p.E226_D227del1
c.678_680delTCT
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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."