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.S24P

c.70T>C

Surrounding Variants

1 paper

NM_022089.4

p.I25V

c.73A>G

1 paper

NM_022089.4

p.G22G

c.66G>A

1 paper

NM_022089.4

p.G22V

c.65G>T

1 paper

NM_022089.4

p.G22E

c.65G>A

3 papers

NM_022089.4

p.T20M

c.59C>T

1 paper

NM_022089.4

p.T20P

c.58A>C

1 paper

NM_022089.4

p.L19L

c.57G>A

1 paper

NM_022089.4

p.L28_S29insFs

c.84_85insGC

1 paper

NM_022089.4

p.S30insFs

c.89_90ins8

1 paper

NM_022089.4

p.G17W

c.49G>T

2 papers

NM_022089.4

p.S31*

c.92C>G

1 paper

NM_022089.4

p.S31*

c.92C>A