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

15 papers

NM_022089.4

p.T517I

c.1550C>T

NM_001141973.3

p.T512I

c.1535C>T

Surrounding Variants

1 paper

NM_001141973.3

p.T512A

c.1534A>G

1 paper

NM_022089.4

p.G516D

c.1547G>A

3 papers

NM_022089.4

p.T519I

c.1556C>T

3 papers

NM_022089.4

p.T515M

c.1544C>T

1 paper

NM_022089.4

p.E520K

c.1558G>A

1 paper

NM_022089.4

p.L518_T519delFs

c.1554_1557del4

1 paper

NM_022089.4

p.G522S

c.1564G>A

1 paper

NM_001141973.3

p.G517V

c.1550G>T

1 paper

NM_022089.4

p.M526V

c.1576A>G

1 paper

NM_022089.4

p.G527R

c.1579G>A

1 paper

NM_022089.4

p.P530H

c.1589C>A

1 paper

NM_022089.4

p.L531M

c.1591C>A