Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.A282V

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
2 papers
NM_003309.4
p.A282V
c.845C>T
Surrounding Variants
1 paper
NM_003309.4
p.D247H
c.739G>C
3 papers
NM_003309.4
p.K320R
c.959A>G
6 papers
NM_003309.4
p.V242delFs
c.725_726delCA
1 paper
NM_003309.4
p.V242fs
c.724_725fs
2 papers
NM_003309.4
p.V242fs
c.724_725fs
1 paper
NM_003309.4
p.F324_F325del1
c.972_974delAAG
1 paper
NM_003309.4
p.F324_F325del2
c.970_974del6
1 paper
NM_003309.4
p.E233A
c.698A>C
1 paper
NM_003309.4
p.L335L
c.1005G>C
1 paper
NM_003309.4
p.E225*
c.673G>T
1 paper
NM_003309.4
p.P222S
c.664C>T
1 paper
NM_003309.4
p.G219R
c.655G>C
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