Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.S140C

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.S140C
c.419C>G
Surrounding Variants
3 papers
NM_003309.4
p.E153fs
c.457_458fs
7 papers
NM_003309.4
p.E153insFs
c.457_458insG
5 papers
NM_003309.4
p.Q126H
c.378G>T
5 papers
NM_003309.4
p.Q126H
c.378G>C
1 paper
NM_003309.4
p.A150_E154del0
c.449_460del12
1 paper
NM_003309.4
p.A150_E154del5
c.448_461del15
1 paper
NM_003309.4
p.V125F
c.373G>T
1 paper
NM_003309.4
p.V163I
c.487G>A
1 paper
NM_003309.4
p.V163A
c.488T>C
1 paper
NM_003309.4
p.L108_A109delFs
c.324_325delCC
1 paper
NM_003309.4
p.E174V
c.521A>T
2 papers
NM_003309.4
p.E174ins1
c.521_522insGGT
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