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

9 papers

NM_022089.4

p.T733M

c.2198C>T

Surrounding Variants

2 papers

NM_022089.4

p.T733R

c.2198C>G

1 paper

NM_022089.4

p.T732_T733del1

c.2196_2198delGTT

1 paper

NM_022089.4

p.T733del1

c.2197_2198delCGT

5 papers

NM_022089.4

p.Q737*

c.2209C>T

1 paper

NM_022089.4

p.A738G

c.2213C>G

5 papers

NM_022089.4

p.R740*

c.2218C>T

1 paper

NM_022089.4

p.R741R

c.2221A>C

1 paper

NM_022089.4

p.R741K

c.2222G>A

1 paper

NM_022089.4

p.M724T

c.2171T>C

1 paper

NM_022089.4

p.T742I

c.2225C>T

2 papers

NM_022089.4

p.R743H

c.2228G>A

3 papers

NM_022089.4

p.R745H

c.2234G>A