Varaico: Literature-Extracted Genetic Variants

Gene:DSTYK
Variant:p.Q218del1

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.Q218del1
c.652_653delCTG
Surrounding Variants
9 papers
NM_015375.3
p.Q218_E219Splc
c.654+1G>A
2 papers
NM_015375.3
p.M212T
c.635T>C
2 papers
NM_015375.3
p.L208P
c.623T>C
3 papers
NM_015375.3
p.D200G
c.599A>G
1 paper
NM_015375.3
p.E190A
c.569A>C
1 paper
NM_015375.3
p.T176T
c.528G>A
1 paper
NM_015375.3
p.R154H
c.461G>A
1 paper
NM_015375.3
p.R152C
c.454C>T
1 paper
NM_015375.3
p.D120N
c.358G>A
2 papers
NM_015375.3
p.G118D
c.353G>A
1 paper
NM_015375.3
p.L117F
c.349C>T
1 paper
NM_015375.3
p.K102E
c.304A>G
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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."