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

2 papers

NM_015488.5

p.E305K

c.913G>A

Surrounding Variants

1 paper

NM_015488.5

p.E307K

c.919G>A

1 paper

NM_015488.5

p.R311Q

c.932G>A

1 paper

NM_015488.5

p.E296E

c.888G>A

1 paper

NM_015488.5

p.E296K

c.886G>A

1 paper

NM_015488.5

p.E296Q

c.886G>C

1 paper

NM_015488.5

p.K314M

c.941A>T

1 paper

NM_015488.5

p.Y293C

c.878A>G

1 paper

NM_015488.5

p.W317*

c.950G>A

1 paper

NM_015488.5

p.V318E

c.953T>A

1 paper

NM_015488.5

p.Q319insFs

c.956dupA

1 paper

NM_015488.5

p.R320fs

c.958_959fs

2 papers

NM_022572.4

p.G266Splc

c.797-1G>C

NM_015488.5

p.G290Splc

c.869-1G>C