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.L537R

c.1610T>G

Surrounding Variants

1 paper

NM_022089.4

p.L537L

c.1611G>T

1 paper

NM_022089.4

p.F536C

c.1607T>G

2 papers

NM_022089.4

p.P538P

c.1614C>T

1 paper

NM_022089.4

p.A535E

c.1604C>A

1 paper

NM_022089.4

p.L539L

c.1617G>T

1 paper

NM_022089.4

p.L539L

c.1617G>C

1 paper

NM_022089.4

p.K532_L539ins2

c.1594_1617dup24

4 papers

NM_022089.4

p.Q534*

c.1600C>T

1 paper

NM_022089.4

p.Q534E

c.1600C>G

1 paper

NM_022089.4

p.P541L

c.1622C>T

24 papers

NM_022089.4

p.G533R

c.1597G>C

NM_001141973.3

p.G528R

c.1582G>C

26 papers

NM_022089.4

p.G533R

c.1597G>A

NM_001141973.3

p.G528R

c.1582G>A