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

46 papers

NM_022089.4

p.G504R

c.1510G>A

Surrounding Variants

46 papers

NM_022089.4

p.G504R

c.1510G>C

1 paper

NM_022089.4

p.G505fs

c.1513_1514fs

1 paper

NM_022089.4

p.N502N

c.1506C>T

1 paper

NM_022089.4

p.G505fs

c.1513_1514fs

1 paper

NM_022089.4

p.G505delFs

c.1514delC

1 paper

NM_022089.4

p.R500delFs

c.1499delC

1 paper

NM_022089.4

p.R500L

c.1499G>T

2 papers

NM_022089.4

p.L499L

c.1497G>C

1 paper

NM_022089.4

p.P498L

c.1493C>T

1 paper

NM_022089.4

p.V510L

c.1528G>T

1 paper

NM_022089.4

p.V510L

c.1528G>C

1 paper

NM_022089.4

p.P498S

c.1492C>T