Varaico: Literature-Extracted Genetic Variants

PNKD

143 papers

RefSeq Summary

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative s...

Pfam Domains

Lactamase_Baa 130–291UCSCMetallo-beta-lactamase superfamily

HAGH_Caa 292–382UCSCHydroxyacylglutathione hydrolase C-terminus

Gene Aliases

HGNC Name

PNKD metallo-beta-lactamase domain containing

HGNC Alias Symbols

DYT8; DKFZp564N1362; FPD1; MR-1; BRP17; FKSG19; TAHCCP2; KIAA1184; KIPP1184; MGC31943; PKND1; MR-1S

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015488.5

p.V5V

c.15A>G

Surrounding Variants

1 paper

NM_015488.5

p.A6T

c.16G>A

1 paper

NM_015488.5

p.A7T

c.19G>A

25 papers

NM_015488.5

p.A7V

c.20C>T

25 papers

NM_015488.5

p.A9V

c.26C>T

1 paper

NM_015488.5

p.M1K

c.2T>A

1 paper

NM_015488.5

p.M1R

c.2T>G

1 paper

NM_015488.5

p.M1V

c.1A>G

1 paper

NM_015488.5

p.A15G

c.44C>G

1 paper

NM_015488.5

p.R16G

c.46A>G

1 paper

NM_015488.5

p.A18insFs

c.52_53insC

1 paper

NM_015488.5

p.R22W

c.64C>T

1 paper

NM_015488.5

p.I24V

c.70A>G