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.R989Q

c.2966G>A

Surrounding Variants

3 papers

NM_022089.4

p.R989P

c.2966G>C

1 paper

NM_022089.4

p.R989W

c.2965C>T

1 paper

NM_022089.4

p.G988delFs

c.2962delC

10 papers

NM_022089.4

p.V990V

c.2970G>A

1 paper

NM_022089.4

p.R991W

c.2971C>T

1 paper

NM_022089.4

p.R991Q

c.2972G>A

2 papers

NM_022089.4

p.L985L

c.2955G>A

2 papers

NM_022089.4

p.P993L

c.2978C>T

1 paper

NM_022089.4

p.G994R

c.2980G>A

2 papers

NM_022089.4

p.A995V

c.2984C>T

1 paper

NM_022089.4

p.P983S

c.2947C>T

1 paper

NM_022089.4

p.G982_P983ins1

c.2946_2947insCAG