Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.Q32E

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.Q32E
c.94C>G
Surrounding Variants
2 papers
NM_003309.4
p.Y33Y
c.99C>T
1 paper
NM_003309.4
p.L36V
c.106C>G
1 paper
NM_003309.4
p.Q23_P25delFs
c.69_73del5
3 papers
NM_003309.4
p.Q23*
c.67C>T
1 paper
NM_003309.4
p.S17N
c.50G>A
1 paper
NM_003309.4
p.G50A
c.149G>C
1 paper
NM_003309.4
p.L13F
c.37C>T
1 paper
NM_003309.4
p.G50_G52delFs
c.150_154del5
10 papers
NM_003309.4
p.P62S
c.184C>T
1 paper
NM_003309.4
p.P63P
c.189G>A
1 paper
NM_003309.4
p.E67V
c.200A>T
1 paper
NM_003309.4
p.Q72fs
c.214_215fs
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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."