Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.K320R

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
3 papers
NM_003309.4
p.K320R
c.959A>G
Surrounding Variants
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.L335L
c.1005G>C
1 paper
NM_003309.4
p.L351L
c.1053T>A
1 paper
NM_003309.4
p.T353A
c.1057A>G
2 papers
NM_003309.4
p.A282V
c.845C>T
5 papers
NM_003309.4
p.F366L
c.1096T>C
5 papers
NM_003309.4
p.F366L
c.1098C>G
6 papers
NM_003309.4
p.F366L
c.1098C>A
4 papers
NM_003309.4
p.T379A
c.1135A>G
1 paper
NM_003309.4
p.D247H
c.739G>C
6 papers
NM_003309.4
p.V242delFs
c.725_726delCA
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