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.F945L

c.2835C>G

Surrounding Variants

1 paper

NM_022089.4

p.F945L

c.2835C>A

10 papers

NM_022089.4

p.I946F

c.2836A>T

1 paper

NM_022089.4

p.F945L

c.2833T>C

1 paper

NM_022089.4

p.F945I

c.2833T>A

1 paper

NM_022089.4

p.T943I

c.2828C>T

6 papers

NM_022089.4

p.S941delFs

c.2822delC

1 paper

NM_022089.4

p.I950fs

c.2848_2849fs

1 paper

NM_022089.4

p.S941C

c.2821A>T

1 paper

NM_022089.4

p.I950delFs

c.2848_2849delAT

1 paper

NM_022089.4

p.L939P

c.2816T>C

1 paper

NM_022089.4

p.L939L

c.2815C>T

1 paper

NM_022089.4

p.A938V

c.2813C>T