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

1 paper

NM_005184.4

p.D23E

c.69T>A

Surrounding Variants

1 paper

NM_005184.4

p.D23E

c.69T>G

1 paper

NM_005184.4

p.I28V

c.82A>G

1 paper

NM_005184.4

p.E32K

c.94G>A

2 papers

NM_005184.4

p.E46K

c.136G>A

11 papers

NM_005184.4

p.N54I

c.161A>T

1 paper

NM_005184.4

p.G60Splc

c.178+18C>T

1 paper

NM_005184.4

p.G60Splc

c.178+66T>C

1 paper

NM_005184.4

p.F66L

c.196T>C

1 paper

NM_005184.4

p.F66L

c.198C>A

1 paper

NM_005184.4

p.F66L

c.198C>G

1 paper

NM_005184.4

p.P67Q

c.200C>A

1 paper

NM_005184.4

p.M77I

c.231G>A