Varaico: Literature-Extracted Genetic Variants

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_1aa 12–40UCSCEF hand domain

Gene Aliases

HGNC Name

calmodulin 3

HGNC Alias Symbols

PHKD; PHKD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_005184.4

p.Q136P

c.407A>C

Surrounding Variants

1 paper

NM_005184.4

p.G135D

c.404G>A

1 paper

NM_005184.4

p.D134E

c.402T>A

1 paper

NM_005184.4

p.D134E

c.402T>G

5 papers

NM_005184.4

p.D134H

c.400G>C

3 papers

NM_005184.4

p.N138K

c.414T>A

3 papers

NM_005184.4

p.N138K

c.414T>G

1 paper

NM_005184.4

p.E140K

c.418G>A

1 paper

NM_005184.4

p.E140Q

c.418G>C

13 papers

NM_005184.4

p.D132E

c.396T>A

12 papers

NM_005184.4

p.D132E

c.396T>G

1 paper

NM_005184.4

p.D132G

c.395A>G

1 paper

NM_005184.4

p.E140G

c.419A>G