Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL2
Variant:p.K545E

TSPYL2

93 papers

RefSeq Summary

This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in ch...

Pfam Domains

NAPaa 260–415UCSCNucleosome assembly protein (NAP)

Gene Aliases

HGNC Name

TSPY like 2

HGNC Alias Symbols

SE20-4; HRIHFB2216; CTCL; DENTT; CDA1; CINAP; TSPX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022117.4
p.K545E
c.1633A>G
Surrounding Variants
1 paper
NM_022117.4
p.K545I
c.1634A>T
1 paper
NM_022117.4
p.G546C
c.1636G>T
1 paper
NM_022117.4
p.G540_N542del0
c.1620_1625del6
1 paper
NM_022117.4
p.G540_N542del3
c.1618_1625del9
1 paper
NM_022117.4
p.Q556H
c.1668G>C
1 paper
NM_022117.4
p.Q556H
c.1668G>T
1 paper
NM_022117.4
p.D587del1
c.1759_1760delGAT
1 paper
NM_022117.4
p.N495D
c.1483A>G
1 paper
NM_022117.4
p.D494_N495delFs
c.1480_1484del5
1 paper
NM_022117.4
p.D494_N495del2
c.1480_1484del6
1 paper
NM_022117.4
p.E607Q
c.1819G>C
1 paper
NM_022117.4
p.S479N
c.1436G>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."