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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAP2K3

MAP2K3

185 papers

RefSeq Summary

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in ...

Pfam Domains

Pkinaseaa 64–325UCSCProtein kinase domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase 3

HGNC Previous Symbol

PRKMK3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 120 variants

9 papers

chr17:21300880 C>T

NM_145109.3

p.R96W

c.286C>T

Pkinase

Exome: 49.8% (AC=695652, hom=0)Genome: 50.0% (AC=76212, hom=0)7 overlapping SVs

9 papers

chr17:21300898 C>T

NM_145109.3

p.Q102*

c.304C>T

Pkinase

Exome: 49.8% (AC=696960, hom=1)Genome: 50.0% (AC=76208, hom=0)7 overlapping SVs

9 papers

chr17:21304522 C>T

NM_145109.3

p.T222M

c.665C>T

Pkinase

Exome: 26.1% (AC=322360, hom=0)Genome: 29.9% (AC=41251, hom=0)7 overlapping SVs

9 papers

chr17:21314201 G>A

NM_145109.3

p.V339M

c.1015G>A

Exome: 0.0% (AC=82, hom=0)Genome: 0.0% (AC=4, hom=0)8 overlapping SVs

8 papers

chr17:21298879 C>A

NM_145109.3

p.P40T

c.118C>A

Exome: 50.0% (AC=729289, hom=1)Genome: 50.0% (AC=76135, hom=1)8 overlapping SVs

8 papers

chr17:21300581 T>C

NM_145109.3

p.S68P

c.202T>C

Pkinase

Exome: 49.7% (AC=697665, hom=3)Genome: 50.0% (AC=76163, hom=0)8 overlapping SVs

8 papers

chr17:21300875 G>T

NM_145109.3

p.R94L

c.281G>T

Pkinase

Exome: 49.9% (AC=695897, hom=1)Genome: 50.0% (AC=76214, hom=1)7 overlapping SVs

7 papers

chr17:21300629 G>A

NM_145109.3

p.A84T

c.250G>A

Pkinase

Exome: 10.3% (AC=100819, hom=0)Genome: 30.2% (AC=41797, hom=0)8 overlapping SVs

7 papers

chr17:21312245 G>A

NM_145109.3

p.R293H

c.878G>A

Pkinase

Exome: 0.0% (AC=71, hom=0)Genome: 0.0% (AC=7, hom=0)8 overlapping SVs

6 papers

chr17:21298440 G>C

NM_145109.3

p.R26P

c.77G>C

exact variant not in gnomAD8 overlapping SVs

5 papers

chr17:21298925 G>C

NM_145109.3

p.R55T

c.164G>C

Exome: 50.0% (AC=729109, hom=1)Genome: 50.0% (AC=76172, hom=0)8 overlapping SVs

3 papers

chr17:21303223 T>G

NM_145109.3

p.V186G

c.557T>G

Pkinase

exact variant not in gnomAD7 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."