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

3 papers

NM_005184.4

p.M145V

c.433A>G

Surrounding Variants

15 papers

NM_005184.4

p.F142L

c.426T>A

16 papers

NM_005184.4

p.F142L

c.426T>G

14 papers

NM_005184.4

p.F142L

c.424T>C

1 paper

NM_005184.4

p.F142fs

c.424_425fs

1 paper

NM_005184.4

p.E141G

c.422A>G

1 paper

NM_005184.4

p.E141Splc

c.422-45T>G

1 paper

NM_005184.4

p.E141Splc

c.421+4A>G

17 papers

NM_005184.4

p.E141G

c.422A>G

2 papers

NM_005184.4

p.E141V

c.422A>T

4 papers

NM_005184.4

p.E141K

c.421G>A

1 paper

NM_005184.4

p.E140G

c.419A>G

1 paper

NM_005184.4

p.E140V

c.419A>T