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

3 papers

NM_022089.4

p.P550H

c.1649C>A

Surrounding Variants

1 paper

NM_022089.4

p.R544_L551insFs

c.1632_1653dup22

6 papers

NM_022089.4

p.L552fs

c.1654_1655fs

1 paper

NM_022089.4

p.R553*

c.1657C>T

1 paper

NM_022089.4

p.R553Q

c.1658G>A

1 paper

NM_022089.4

p.L555V

c.1663C>G

1 paper

NM_022089.4

p.R545L

c.1634G>T

2 papers

NM_022089.4

p.R545H

c.1634G>A

2 papers

NM_022089.4

p.R545C

c.1633C>T

1 paper

NM_022089.4

p.R544H

c.1631G>A

2 papers

NM_022089.4

p.R544C

c.1630C>T

1 paper

NM_022089.4

p.T557I

c.1670C>T

1 paper

NM_022089.4

p.C558Y

c.1673G>A