Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.L108_A109delFs

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.L108_A109delFs
c.324_325delCC
Surrounding Variants
1 paper
NM_003309.4
p.P104L
c.311C>T
1 paper
NM_003309.4
p.Q102R
c.305A>G
1 paper
NM_003309.4
p.V125F
c.373G>T
5 papers
NM_003309.4
p.Q126H
c.378G>T
5 papers
NM_003309.4
p.Q126H
c.378G>C
3 papers
NM_003309.4
p.R89H
c.266G>A
2 papers
NM_003309.4
p.Q82H
c.246G>T
2 papers
NM_003309.4
p.Q82H
c.246G>C
1 paper
NM_003309.4
p.G79delFs
c.236delC
1 paper
NM_003309.4
p.G79fs
c.235_236fs
1 paper
NM_003309.4
p.S140C
c.419C>G
1 paper
NM_003309.4
p.G69_D73del5
c.205_218del15
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."