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.Q870Splc

c.2610-2A>G

Surrounding Variants

1 paper

NM_022089.4

p.Q870*

c.2608C>T

1 paper

NM_022089.4

p.Q870H

c.2610G>T

1 paper

NM_022089.4

p.Q870Q

c.2610G>A

1 paper

NM_022089.4

p.C872R

c.2614T>C

2 papers

NM_022089.4

p.G874G

c.2622C>T

1 paper

NM_022089.4

p.M875L

c.2623A>T

1 paper

NM_022089.4

p.M875L

c.2623A>C

34 papers

NM_022089.4

p.G877R

c.2629G>C

NM_001141973.3

p.G872R

c.2614G>C

39 papers

NM_022089.4

p.G877R

c.2629G>A

NM_001141973.3

p.G872R

c.2614G>A

8 papers

NM_022089.4

p.G879G

c.2637C>T

1 paper

NM_022089.4

p.A880S

c.2638G>T

1 paper

NM_022089.4

p.N881I

c.2642A>T