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

1–12 of 117 variants

25 papers

NM_015488.5

p.A7V

c.20C>T

25 papers

NM_015488.5

p.A9V

c.26C>T

13 papers

NM_015488.5

p.A33P

c.97G>C

4 papers

NM_015488.5

p.G89R

c.265G>C

3 papers

NM_015488.5

p.P341fs

c.1021_1022fs

2 papers

NM_015488.5

p.R85H

c.254G>A

2 papers

NM_015488.5

p.G89R

c.265G>A

2 papers

NM_015488.5

p.E305K

c.913G>A

2 papers

NM_015488.5

p.P341delFs

c.1022delC

2 papers

NM_015488.5

p.P341fs

c.1021_1022fs

1 paper

NM_015488.5

p.M1V

c.1A>G

1 paper

NM_015488.5

p.M1K

c.2T>A