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.L333L

c.999G>A

Surrounding Variants

1 paper

NM_015488.5

p.S331C

c.992C>G

1 paper

NM_015488.5

p.R337R

c.1011C>T

1 paper

NM_015488.5

p.T328_C329Splc

c.985-1G>C

2 papers

NM_015488.5

p.P341delFs

c.1022delC

1 paper

NM_015488.5

p.N340_P341insFs

c.1020_1021ins5

2 papers

NM_015488.5

p.P341fs

c.1021_1022fs

3 papers

NM_015488.5

p.P341fs

c.1021_1022fs

1 paper

NM_015488.5

p.E352_L354del0

c.1055_1060del6

1 paper

NM_015488.5

p.P356P

c.1068G>A

1 paper

NM_015488.5

p.D365N

c.1093G>A

1 paper

NM_015488.5

p.R368G

c.1102C>G

1 paper

NM_015488.5

p.L371H

c.1112T>A