Varaico: Literature-Extracted Genetic Variants

Gene:MNS1
Variant:p.E136fs

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
3 papers
NM_018365.4
p.E136fs
c.406_407fs
Surrounding Variants
2 papers
NM_018365.4
p.E136_R137delFs
c.407_410del4
1 paper
NM_018365.4
p.K127delFs
c.381delT
1 paper
NM_018365.4
p.K126_K127delFs
c.378_379delTC
1 paper
NM_018365.4
p.E125D
c.375G>T
1 paper
NM_018365.4
p.E125D
c.375G>C
1 paper
NM_018365.4
p.E143_D145del3
c.427_434del9
1 paper
NM_018365.4
p.E123K
c.367G>A
1 paper
NM_018365.4
p.M152V
c.454A>G
1 paper
NM_018365.4
p.M152_K153Splc
c.457-7A>C
1 paper
NM_018365.4
p.T161fs
c.481_482fs
1 paper
NM_018365.4
p.M162I
c.486G>T
1 paper
NM_018365.4
p.M162I
c.486G>C
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