Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.F366L

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
6 papers
NM_003309.4
p.F366L
c.1098C>A
Surrounding Variants
5 papers
NM_003309.4
p.F366L
c.1098C>G
5 papers
NM_003309.4
p.F366L
c.1096T>C
4 papers
NM_003309.4
p.T379A
c.1135A>G
1 paper
NM_003309.4
p.T353A
c.1057A>G
1 paper
NM_003309.4
p.L351L
c.1053T>A
1 paper
NM_003309.4
p.L335L
c.1005G>C
1 paper
NM_003309.4
p.Q406fs
c.1216_1217fs
1 paper
NM_003309.4
p.Q406insFs
c.1217_1218ins4
1 paper
NM_003309.4
p.F324_F325del2
c.970_974del6
1 paper
NM_003309.4
p.F324_F325del1
c.972_974delAAG
3 papers
NM_003309.4
p.K320R
c.959A>G
1 paper
NM_003309.4
p.R420C
c.1258C>T
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."