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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DAPK2

DAPK2

60 papers

RefSeq Summary

This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with ...

Pfam Domains

Pkinaseaa 23–285UCSCProtein kinase domain

Gene Aliases

HGNC Name

death associated protein kinase 2

HGNC Alias Symbols

DRP-1; MGC119312

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 44 variants

6 papers

chr15:63983644 C>T

NM_014326.5

p.R68Q

c.203G>A

Pkinase

Exome: 0.5% (AC=6622, hom=24)Genome: 0.4% (AC=622, hom=2)16 overlapping SVs

3 papers

chr15:63983668 C>T

NM_014326.5

p.R60Q

c.179G>A

Pkinase

Exome: 0.6% (AC=8600, hom=27)Genome: 0.4% (AC=624, hom=0)16 overlapping SVs

2 papers

chr15:63929567 C>T

NM_014326.5

p.V215I

c.643G>A

Pkinase

Exome: 0.0% (AC=427, hom=0)Genome: 0.0% (AC=74, hom=0)16 overlapping SVs

1 paper

chr15:64040261 T>C

NM_014326.5

p.M1V

c.1A>G

Exome: 0.0% (AC=287, hom=1)Genome: 0.0% (AC=35, hom=0)17 overlapping SVs

1 paper

chr15:64040260 A>G

NM_014326.5

p.M1T

c.2T>C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)17 overlapping SVs

1 paper

chr15:64040253 C>T

NM_014326.5

p.Q3Q

c.9G>A

exact variant not in gnomAD17 overlapping SVs

1 paper

chr15:64040209 T>A

NM_014326.5

p.K18M

c.53A>T

exact variant not in gnomAD17 overlapping SVs

1 paper

chr15:64040186 C>G

NM_014326.5

p.G26R

c.76G>C

Pkinase

exact variant not in gnomAD17 overlapping SVs

1 paper

chr15:64040186 C>T

NM_014326.5

p.G26R

c.76G>A

Pkinase

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=1, hom=0)17 overlapping SVs

1 paper

chr15:63983738 C>T

NM_014326.5

p.V37M

c.109G>A

Pkinase

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=11, hom=0)16 overlapping SVs

1 paper

chr15:63983726 G>A

NM_014326.5

p.R41W

c.121C>T

Pkinase

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=7, hom=0)16 overlapping SVs

1 paper

chr15:63983720 T>A

NM_014326.5

p.K43*

c.127A>T

Pkinase

exact variant not in gnomAD16 overlapping SVs

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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."