Varaico: Literature-Extracted Genetic Variants

Gene:MNS1
Variant:p.C23R

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.C23R
c.67T>C
Surrounding Variants
1 paper
NM_018365.4
p.C23*
c.69C>A
1 paper
NM_018365.4
p.C23delins
c.68_69delinsAG
1 paper
NM_018365.4
p.A30G
c.89C>G
1 paper
NM_018365.4
p.S11delFs
c.33delA
1 paper
NM_018365.4
p.Q41delFs
c.123delT
1 paper
NM_018365.4
p.M1_G2Splc
c.4-5C>G
1 paper
NM_018365.4
p.N47fs
c.139_140fs
1 paper
NM_018365.4
p.N47delFs
c.140delT
1 paper
NM_018365.4
p.D48_N49del1
c.143_145delTAT
1 paper
NM_018365.4
p.Q55P
c.164A>C
1 paper
NM_018365.4
p.E71delFs
c.211delC
1 paper
NM_018365.4
p.E71E
c.213G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."