Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1

TSPYL1

77 papers

RefSeq Summary

The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant d...

Pfam Domains

NAPaa 273–410UCSCNucleosome assembly protein (NAP)

Gene Aliases

HGNC Name

TSPY like 1

HGNC Previous Name

TSPY-like

Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
10 papers
NM_003309.4
p.P62S
c.184C>T
10 papers
NM_003309.4
p.V176_K177ins1
c.528_529insGTG
7 papers
NM_003309.4
p.A74P
c.220G>C
7 papers
NM_003309.4
p.E153insFs
c.457_458insG
6 papers
NM_003309.4
p.V175_V176ins0
c.525_527dupGGT
6 papers
NM_003309.4
p.V242delFs
c.725_726delCA
6 papers
NM_003309.4
p.F366L
c.1098C>A
5 papers
NM_003309.4
p.Q126H
c.378G>T
5 papers
NM_003309.4
p.Q126H
c.378G>C
5 papers
NM_003309.4
p.F366L
c.1096T>C
5 papers
NM_003309.4
p.F366L
c.1098C>G
4 papers
NM_003309.4
p.T379A
c.1135A>G
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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."