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.F66L

c.196T>C

Surrounding Variants

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

1 paper

NM_005184.4

p.M77I

c.231G>C

1 paper

NM_005184.4

p.M77I

c.231G>T

1 paper

NM_005184.4

p.E84K

c.250G>A

1 paper

NM_005184.4

p.R87*

c.259C>T

4 papers

NM_005184.4

p.F90L

c.268T>C

4 papers

NM_005184.4

p.F90L

c.270C>A

4 papers

NM_005184.4

p.F90L

c.270C>G

1 paper

NM_005184.4

p.V92D

c.275T>A