Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL2
Variant:p.L299insFs

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.L299insFs
c.896dupT
Surrounding Variants
1 paper
NM_022117.4
p.Q297*
c.889C>T
1 paper
NM_022117.4
p.Y306*
c.918C>A
1 paper
NM_022117.4
p.Y306*
c.918C>G
1 paper
NM_022117.4
p.F318Y
c.953T>A
1 paper
NM_022117.4
p.R329C
c.985C>T
2 papers
NM_022117.4
p.R289H
c.866G>A
2 papers
NM_022117.4
p.R334Q
c.1001G>A
1 paper
NM_022117.4
p.L335L
c.1003C>T
1 paper
NM_022117.4
p.T340A
c.1018A>G
1 paper
NM_022117.4
p.R346W
c.1036C>T
1 paper
NM_022117.4
p.R353C
c.1057C>T
1 paper
NM_022117.4
p.F368I
c.1102T>A
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