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.W1028Splc

c.3083+2T>A

Surrounding Variants

2 papers

NM_022089.4

p.W1028Splc

c.3083+2T>C

1 paper

NM_022089.4

p.A1025delFs

c.3075delG

2 papers

NM_022089.4

p.Y1020Y

c.3060C>T

1 paper

NM_022089.4

p.Y1020fs

c.3058_3059fs

4 papers

NM_022089.4

p.Y1020C

c.3059A>G

36 papers

NM_022089.4

p.G1019delFs

c.3057delG

6 papers

NM_022089.4

p.Y1020fs

c.3058_3059fs

5 papers

NM_022089.4

p.G1019fs

c.3055_3056fs

2 papers

NM_022089.4

p.G1019delFs

c.3056delC

1 paper

NM_022089.4

p.V1015A

c.3044T>C

2 papers

NM_022089.4

p.G1014delFs

c.3042delG

1 paper

NM_022089.4

p.G1014C

c.3040G>T