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

4 papers

NM_015488.5

p.G89R

c.265G>C

Surrounding Variants

2 papers

NM_015488.5

p.G89R

c.265G>A

1 paper

NM_015488.5

p.L88V

c.262C>G

2 papers

NM_015488.5

p.R85H

c.254G>A

1 paper

NM_015488.5

p.T84insFs

c.250_251insCC

1 paper

NM_015488.5

p.Y83insFs

c.248_249ins4

1 paper

NM_015488.5

p.Q95*

c.283C>T

1 paper

NM_015488.5

p.L97R

c.290T>G

1 paper

NM_015488.5

p.R98C

c.292C>T

1 paper

NM_015488.5

p.R98H

c.293G>A

1 paper

NM_015488.5

p.A100T

c.298G>A

1 paper

NM_015488.5

p.R101W

c.301C>T

1 paper

NM_015488.5

p.R101Q

c.302G>A