Varaico: Literature-Extracted Genetic Variants

Gene:CALM3

CALM3

149 papers

RefSeq Summary

This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis....

Pfam Domains

EF-hand_7aa 10–74UCSCEF-hand domain pair
EF-hand_7aa 10–74UCSCEF-hand domain pair
EF-hand_7aa 10–74UCSCEF-hand domain pair
EF-hand_1aa 12–40UCSCEF hand domain
EF-hand_1aa 12–40UCSCEF hand domain
EF-hand_1aa 12–40UCSCEF hand domain

Gene Aliases

HGNC Name

calmodulin 3

HGNC Alias Symbols

PHKD; PHKD3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
27 papers
NM_005184.4
p.A103V
c.308C>T
20 papers
NM_005184.4
p.D130G
c.389A>G
17 papers
NM_005184.4
p.E141G
c.422A>G
16 papers
NM_005184.4
p.F142L
c.426T>G
15 papers
NM_005184.4
p.F142L
c.426T>A
14 papers
NM_005184.4
p.F142L
c.424T>C
13 papers
NM_005184.4
p.D132E
c.396T>A
12 papers
NM_005184.4
p.D96H
c.286G>C
12 papers
NM_005184.4
p.D96V
c.287A>T
12 papers
NM_005184.4
p.D132E
c.396T>G
11 papers
NM_005184.4
p.N54I
c.161A>T
10 papers
NM_005184.4
p.N98S
c.293A>G
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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."