Varaico: Literature-Extracted Genetic Variants

Gene:TSKS
Variant:p.L519H

TSKS

43 papers

RefSeq Summary

This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is l...

Pfam Domains

TSKSaa 66–592UCSCTestis-specific serine kinase substrate

Gene Aliases

HGNC Name

testis specific serine kinase substrate

HGNC Alias Symbols

TSSKS; PPP1R161

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021733.2
p.L519H
c.1556T>A
Surrounding Variants
1 paper
NM_021733.2
p.R520W
c.1558C>T
2 papers
NM_021733.2
p.L532insFs
c.1594dupC
1 paper
NM_021733.2
p.L557F
c.1669C>T
1 paper
NM_021733.2
p.D559N
c.1675G>A
1 paper
NM_021733.2
p.L566I
c.1696C>A
1 paper
NM_021733.2
p.P486P
c.1458T>C
1 paper
NM_021733.2
p.G483G
c.1449C>T
1 paper
NM_021733.2
p.G483V
c.1448G>T
2 papers
NM_021733.2
p.E478K
c.1432G>A
2 papers
NM_021733.2
p.A471E
c.1412C>A
1 paper
NM_021733.2
p.E423E
c.1269G>A
1 paper
NM_021733.2
p.E410K
c.1228G>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."