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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HRK

HRK

21 papers

RefSeq Summary

This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protei...

Pfam Domains

Harakiriaa 1–91UCSCActivator of apoptosis harakiri

Gene Aliases

HGNC Name

harakiri, BCL2 interacting protein

HGNC Alias Symbol

DP5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr12:116881240 A>G

NM_003806.4

p.L23P

c.68T>C

Harakiri

Exome: 0.0% (AC=3, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr12:116881227 C>A

NM_003806.4

p.S27S

c.81G>T

Harakiri

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

1 paper

chr12:116881168 C>T

NM_003806.4

p.R47H

c.140G>A

Harakiri

Exome: 0.0% (AC=2, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr12:116881143 C>G

NM_003806.4

p.R55R

c.165G>C

Harakiri

exact variant not in gnomAD12 overlapping SVs

1 paper

chr12:116881127 C>G

NM_003806.4

p.A61P

c.181G>C

Harakiri

Exome: 0.0% (AC=0, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr12:116881124 G>A

NM_003806.4

p.P62S

c.184C>T

Harakiri

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=11, hom=0)12 overlapping SVs

1 paper

chr12:116881092 C>T

NM_003806.4

p.L72L

c.216G>A

Harakiri

Exome: 0.0% (AC=0, hom=0)Genome: n/a12 overlapping SVs

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