Varaico: Literature-Extracted Genetic Variants

Gene:MNS1
Variant:p.R435K

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
1 paper
NM_018365.4
p.R435K
c.1304G>A
Surrounding Variants
1 paper
NM_018365.4
p.R425H
c.1274G>A
1 paper
NM_018365.4
p.Q424H
c.1272A>T
1 paper
NM_018365.4
p.Q424H
c.1272A>C
1 paper
NM_018365.4
p.H455L
c.1364A>T
1 paper
NM_018365.4
p.H455H
c.1365T>C
1 paper
NM_018365.4
p.G461S
c.1381G>A
1 paper
NM_018365.4
p.K469*
c.1405A>T
1 paper
NM_018365.4
p.K470insFs
c.1410dupA
1 paper
NM_018365.4
p.R415S
c.1243C>A
1 paper
NM_018365.4
p.I412delFs
c.1235delA
1 paper
NM_018365.4
p.L411V
c.1231C>G
2 papers
NM_018365.4
p.A407_K410del4
c.1219_1229del12
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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."