Varaico: Literature-Extracted Genetic Variants

Gene:CAMK1D
Variant:p.R275Q

CAMK1D

64 papers

RefSeq Summary

This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-d...

Pfam Domains

Pkinaseaa 23–279UCSCProtein kinase domain

Gene Aliases

HGNC Name

calcium/calmodulin dependent protein kinase ID

HGNC Alias Symbol

CKLiK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153498.4
p.R275Q
c.824G>A
Surrounding Variants
2 papers
NM_153498.4
p.R275W
c.823C>T
1 paper
NM_153498.4
p.D247D
c.741C>T
1 paper
NM_153498.4
p.W245L
c.734G>T
1 paper
NM_153498.4
p.F240Y
c.719T>A
1 paper
NM_153498.4
p.A236E
c.707C>A
1 paper
NM_153498.4
p.C216C
c.648C>T
1 paper
NM_153498.4
p.L214Splc
c.642-137G>A
1 paper
NM_153498.4
p.V293I
c.877G>A
1 paper
NM_153498.4
p.A295T
c.883G>A
1 paper
NM_153498.4
p.K303M
c.908A>T
2 papers
NM_153498.4
p.V316V
c.948C>G
1 paper
NM_153498.4
p.S326N
c.977G>A
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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."