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.I24V

c.70A>G

Surrounding Variants

13 papers

NM_015488.5

p.A33P

c.97G>C

1 paper

NM_015488.5

p.E48V

c.143A>T

1 paper

NM_015488.5

p.E51Q

c.151G>C

1 paper

NM_015488.5

p.E52_P53insC

c.154_158ins3

1 paper

NM_015488.5

p.P55S

c.163C>T

1 paper

NM_015488.5

p.P58insFs

c.173_174insA

1 paper

NM_015488.5

p.K66Q

c.196A>C

1 paper

NM_015488.5

p.K66M

c.197A>T

1 paper

NM_015488.5

p.G68G

c.204C>T

1 paper

NM_015488.5

p.G76R

c.226G>A

1 paper

NM_015488.5

p.L77P

c.230T>C

1 paper

NM_015488.5

p.R22W

c.64C>T