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.S6insFs

c.16dupA

Surrounding Variants

1 paper

NM_022089.4

p.P7L

c.20C>T

1 paper

NM_022089.4

p.V9M

c.25G>A

31 papers

NM_022089.4

p.T12M

c.35C>T

1 paper

NM_022089.4

p.T12R

c.35C>G

2 papers

NM_022089.4

p.T12T

c.36G>A

1 paper

NM_022089.4

p.T14T

c.42C>T

1 paper

NM_022089.4

p.G15insFs

c.43_44insC

1 paper

NM_022089.4

p.G15S

c.43G>A

1 paper

NM_022089.4

p.G17W

c.49G>T

1 paper

NM_022089.4

p.L19L

c.57G>A

1 paper

NM_022089.4

p.T20P

c.58A>C

3 papers

NM_022089.4

p.T20M

c.59C>T