Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.V175_V176ins0

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
Selected Variant
6 papers
NM_003309.4
p.V175_V176ins0
c.525_527dupGGT
Surrounding Variants
2 papers
NM_003309.4
p.K177E
c.529A>G
10 papers
NM_003309.4
p.V176_K177ins1
c.528_529insGTG
1 paper
NM_003309.4
p.V176delFs
c.527_528delCA
1 paper
NM_003309.4
p.K177M
c.530A>T
1 paper
NM_003309.4
p.V176Fs
c.527_528delinsGTGFs
1 paper
NM_003309.4
p.E174Fs
c.522delinsGGTFs
1 paper
NM_003309.4
p.V176_K177insV
c.526_530ins3
1 paper
NM_003309.4
p.V175delFs
c.523_524delAC
1 paper
NM_003309.4
p.V175Fs
c.523_524delinsGGTFs
1 paper
NM_003309.4
p.E174delFs
c.522delC
1 paper
NM_003309.4
p.G179V
c.536G>T
1 paper
NM_003309.4
p.E174V
c.521A>T
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