Varaico: Literature-Extracted Genetic Variants

Gene:CAMK1D
Variant:p.D130D

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.D130D
c.390C>T
Surrounding Variants
1 paper
NM_153498.4
p.V132M
c.394G>A
1 paper
NM_153498.4
p.L124V
c.370C>G
1 paper
NM_153498.4
p.A121G
c.362C>G
1 paper
NM_153498.4
p.E118K
c.352G>A
2 papers
NM_153498.4
p.K113R
c.338A>G
1 paper
NM_153498.4
p.R109Q
c.326G>A
1 paper
NM_153498.4
p.R109W
c.325C>T
1 paper
NM_153498.4
p.S102fs
c.304_305fs
1 paper
NM_153498.4
p.V101M
c.301G>A
1 paper
NM_153498.4
p.L151S
c.452T>C
1 paper
NM_153498.4
p.D176Y
c.526G>T
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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."