Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.E233A

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
1 paper
NM_003309.4
p.E233A
c.698A>C
Surrounding Variants
1 paper
NM_003309.4
p.E225*
c.673G>T
2 papers
NM_003309.4
p.V242fs
c.724_725fs
1 paper
NM_003309.4
p.V242fs
c.724_725fs
6 papers
NM_003309.4
p.V242delFs
c.725_726delCA
1 paper
NM_003309.4
p.P222S
c.664C>T
1 paper
NM_003309.4
p.D247H
c.739G>C
1 paper
NM_003309.4
p.G219R
c.655G>C
1 paper
NM_003309.4
p.G219R
c.655G>A
1 paper
NM_003309.4
p.E207K
c.619G>A
1 paper
NM_003309.4
p.Q195*
c.583C>T
1 paper
NM_003309.4
p.E191V
c.572A>T
1 paper
NM_003309.4
p.V185I
c.553G>A
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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."