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

6 papers

NM_022089.4

p.R487*

c.1459C>T

Surrounding Variants

1 paper

NM_022089.4

p.L488_R489ins8

c.1462_1466ins24

2 papers

NM_022089.4

p.L488R

c.1463T>G

1 paper

NM_022089.4

p.Y483*

c.1449C>G

1 paper

NM_022089.4

p.Y483D

c.1447T>G

1 paper

NM_022089.4

p.Q491*

c.1471C>T

5 papers

NM_022089.4

p.Q491delFs

c.1472_1473delCT

2 papers

NM_022089.4

p.L482F

c.1444C>T

1 paper

NM_022089.4

p.C480delFs

c.1438_1439delCA

1 paper

NM_022089.4

p.F494L

c.1480T>C

1 paper

NM_022089.4

p.F494L

c.1482C>G

1 paper

NM_022089.4

p.F494L

c.1482C>A

2 papers

NM_022089.4

p.M477ins1

c.1429_1430insAAA