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.E120Q

c.358G>C

Surrounding Variants

1 paper

NM_005184.4

p.E120K

c.358G>A

1 paper

NM_005184.4

p.G114R

c.340G>A

1 paper

NM_005184.4

p.G114R

c.340G>C

1 paper

NM_005184.4

p.G114W

c.340G>T

1 paper

NM_005184.4

p.E128K

c.382G>A

1 paper

NM_005184.4

p.D130N

c.388G>A

1 paper

NM_005184.4

p.D130H

c.388G>C

1 paper

NM_005184.4

p.D130A

c.389A>C

20 papers

NM_005184.4

p.D130G

c.389A>G

2 papers

NM_005184.4

p.D130V

c.389A>T

1 paper

NM_005184.4

p.V109I

c.325G>A

1 paper

NM_005184.4

p.D132H

c.394G>C