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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VRK2

Variant:p.A46Splc

VRK2

80 papers

RefSeq Summary

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tu...

Pfam Domains

Pkinaseaa 29–310UCSCProtein kinase domain

Gene Aliases

HGNC Name

VRK serine/threonine kinase 2

HGNC Previous Name

vaccinia related kinase 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:58048980 C>G

NM_006296.7

p.A46Splc

c.136+13C>G

Exome: 0.2% (AC=3262, hom=75)Genome: 1.6% (AC=2509, hom=65)135 overlapping SVs

Surrounding Variants

1 paper

chr2:58048968 C>T

NM_006296.7

p.A46V

c.137C>T

exact variant not in gnomAD135 overlapping SVs

1 paper

chr2:58048961 T>C

NM_006296.7

p.Y44H

c.130T>C

Pkinase

Exome: 0.0% (AC=65, hom=0)Genome: 0.0% (AC=69, hom=1)135 overlapping SVs

1 paper

chr2:58048958 A>G

NM_006296.7

p.I43V

c.127A>G

Pkinase

Exome: 0.0% (AC=3, hom=0)Genome: n/a135 overlapping SVs

5 papers

chr2:58048935 T>C

NM_006296.7

p.I35T

c.104T>C

Pkinase

Exome: 0.4% (AC=5340, hom=44)Genome: 0.3% (AC=425, hom=4)135 overlapping SVs

1 paper

chr2:58048900 T>A

NM_006296.7

p.D23E

c.69T>A

exact variant not in gnomAD135 overlapping SVs

1 paper

chr2:58049074 A>G

NM_006296.7

p.A46Splc

c.136+107A>G

Exome: 0.1% (AC=1310, hom=23)Genome: 0.1% (AC=168, hom=3)135 overlapping SVs

1 paper

chr2:58048833 T>A

NM_006296.7

p.M1K

c.2T>A

exact variant not in gnomAD135 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."