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.R107H

c.320G>A

Surrounding Variants

1 paper

NM_005184.4

p.R107C

c.319C>T

1 paper

NM_005184.4

p.V109I

c.325G>A

3 papers

NM_005184.4

p.E105A

c.314A>C

1 paper

NM_005184.4

p.E105K

c.313G>A

27 papers

NM_005184.4

p.A103V

c.308C>T

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

10 papers

NM_005184.4

p.N98S

c.293A>G

5 papers

NM_005184.4

p.N98I

c.293A>T

5 papers

NM_005184.4

p.D96G

c.287A>G

12 papers

NM_005184.4

p.D96V

c.287A>T