Varaico: Literature-Extracted Genetic Variants

ATP13A2

565 papers

RefSeq Summary

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also re...

Pfam Domains

P5-ATPaseaa 31–176UCSCP5-type ATPase cation transporter

E1-E2_ATPaseaa 290–412UCSCP-type ATPase actuator domain

Cation_ATPaseaa 621–731UCSCP-type ATPase, cytoplasmic domain N

Gene Aliases

HGNC Name

ATPase cation transporting 13A2

HGNC Previous Symbol

PARK9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022089.4

p.R164Q

c.491G>A

Surrounding Variants

3 papers

NM_022089.4

p.R164W

c.490C>T

1 paper

NM_022089.4

p.L163insFs

c.488_489ins8

1 paper

NM_022089.4

p.Y166_L167insFs

c.498_499insTC

1 paper

NM_022089.4

p.R161Q

c.482G>A

1 paper

NM_022089.4

p.K160*

c.478A>T

1 paper

NM_022089.4

p.G170S

c.508G>A

1 paper

NM_022089.4

p.Q159_K160Splc

c.478-4C>T

1 paper

NM_022089.4

p.R172H

c.515G>A

1 paper

NM_022089.4

p.Y173N

c.517T>A

1 paper

NM_022089.4

p.I176I

c.528C>T

1 paper

NM_022089.4

p.I176M

c.528C>G

1 paper

NM_022089.4

p.Q180H

c.540A>T