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.G527R

c.1579G>A

Surrounding Variants

1 paper

NM_022089.4

p.M526V

c.1576A>G

1 paper

NM_022089.4

p.P530H

c.1589C>A

1 paper

NM_022089.4

p.L531M

c.1591C>A

1 paper

NM_022089.4

p.L531R

c.1592T>G

1 paper

NM_022089.4

p.L531P

c.1592T>C

1 paper

NM_001141973.3

p.G517V

c.1550G>T

1 paper

NM_022089.4

p.G522S

c.1564G>A

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

1 paper

NM_022089.4

p.E520K

c.1558G>A

1 paper

NM_022089.4

p.L518_T519delFs

c.1554_1557del4

4 papers

NM_022089.4

p.Q534*

c.1600C>T