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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAMK4

Variant:p.R129Splc

CAMK4

98 papers

RefSeq Summary

The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine prote...

Pfam Domains

Pkinaseaa 46–300UCSCProtein kinase domain

Gene Aliases

HGNC Name

calcium/calmodulin dependent protein kinase IV

HGNC Alias Symbols

CaMK-GR; CaMKIV

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr5:111394709 G>A

NM_001744.6

p.R129Splc

c.387-1G>A

Pkinase

Exome: 0.0% (AC=1, hom=0)Genome: n/a83 overlapping SVs

Surrounding Variants

1 paper

chr5:111394733 G>A

NM_001744.6

p.S137N

c.410G>A

Pkinase

exact variant not in gnomAD84 overlapping SVs

1 paper

chr5:111394738 C>T

NM_001744.6

p.R139*

c.415C>T

Pkinase

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)84 overlapping SVs

1 paper

chr5:111394750 G>A

NM_001744.6

p.D143N

c.427G>A

Pkinase

exact variant not in gnomAD84 overlapping SVs

1 paper

chr5:111394756 G>A

NM_001744.6

p.V145I

c.433G>A

Pkinase

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=3, hom=0)84 overlapping SVs

1 paper

chr5:111394759 A>G

NM_001744.6

p.K146E

c.436A>G

Pkinase

exact variant not in gnomAD84 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."