Varaico: Literature-Extracted Genetic Variants

Gene:DSTYK
Variant:p.K518Q

DSTYK

118 papers

RefSeq Summary

This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encod...

Pfam Domains

Pkinaseaa 653–905UCSCProtein kinase domain

Gene Aliases

HGNC Name

dual serine/threonine and tyrosine protein kinase

HGNC Previous Symbols

RIPK5; SPG23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015375.3
p.K518Q
c.1552A>C
Surrounding Variants
1 paper
NM_015375.3
p.I512T
c.1535T>C
3 papers
NM_015375.3
p.H511R
c.1532A>G
2 papers
NM_015375.3
p.V476M
c.1426G>A
2 papers
NM_015375.3
p.R462*
c.1384C>T
1 paper
NM_015375.3
p.R462R
c.1384C>A
1 paper
NM_015375.3
p.P446S
c.1336C>T
2 papers
NM_015375.3
p.D442Splc
c.1325-2A>G
1 paper
NM_015375.3
p.Q547_I548Splc
c.1641+1G>A
1 paper
NM_015375.3
p.R551H
c.1652G>A
1 paper
NM_015375.3
p.V555M
c.1663G>A
1 paper
NM_015375.3
p.K567E
c.1699A>G
2 papers
NM_015375.3
p.I573T
c.1718T>C
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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."