Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DAPK2

Variant:p.H176Q

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

Selected Variant

1 paper

chr15:63939287 G>T

NM_014326.5

p.H176Q

c.528C>A

Pkinase

exact variant not in gnomAD16 overlapping SVs

Surrounding Variants

1 paper

chr15:63939287 G>C

NM_014326.5

p.H176Q

c.528C>G

Pkinase

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=13, hom=0)16 overlapping SVs

1 paper

chr15:63939303 T>C

NM_014326.5

p.D171G

c.512A>G

Pkinase

exact variant not in gnomAD16 overlapping SVs

1 paper

chr15:63939304 C>A

NM_014326.5

p.D171Y

c.511G>T

Pkinase

Exome: 0.0% (AC=5, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr15:63939246 G>A

NM_014326.5

p.T190M

c.569C>T

Pkinase

Exome: 0.0% (AC=69, hom=0)Genome: 0.0% (AC=5, hom=0)16 overlapping SVs

1 paper

chr15:63930442 C>G

NM_014326.5

p.V199V

c.597G>C

Pkinase

exact variant not in gnomAD16 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

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."