Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL2
Variant:p.L58L

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.L58L
c.174G>C
Surrounding Variants
1 paper
NM_022117.4
p.Q49K
c.145C>A
1 paper
NM_022117.4
p.P72_P73ins9
c.214_218ins27
1 paper
NM_022117.4
p.Q44E
c.130C>G
1 paper
NM_022117.4
p.Q43H
c.129G>T
1 paper
NM_022117.4
p.L39L
c.117G>A
1 paper
NM_022117.4
p.E81fs
c.241_242fs
1 paper
NM_022117.4
p.E81delFs
c.243delG
1 paper
NM_022117.4
p.L34fs
c.100_101fs
2 papers
NM_022117.4
p.P32P
c.96G>C
1 paper
NM_022117.4
p.L90V
c.268C>G
1 paper
NM_022117.4
p.P33_L34del1
c.98_100delCGC
1 paper
NM_022117.4
p.D24_P25ins3
c.72_73ins9
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