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

2 papers

NM_022089.4

p.R544C

c.1630C>T

Surrounding Variants

1 paper

NM_022089.4

p.R544H

c.1631G>A

2 papers

NM_022089.4

p.R545C

c.1633C>T

1 paper

NM_022089.4

p.R545L

c.1634G>T

2 papers

NM_022089.4

p.R545H

c.1634G>A

4 papers

NM_022089.4

p.P541fs

c.1621_1622fs

1 paper

NM_022089.4

p.P541L

c.1622C>T

1 paper

NM_022089.4

p.K532_L539ins2

c.1594_1617dup24

1 paper

NM_022089.4

p.L539L

c.1617G>T

1 paper

NM_022089.4

p.L539L

c.1617G>C

2 papers

NM_022089.4

p.P538P

c.1614C>T

1 paper

NM_022089.4

p.L537L

c.1611G>T

3 papers

NM_022089.4

p.P550H

c.1649C>A