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

1–12 of 808 variants

46 papers

NM_022089.4

p.G504R

c.1510G>C

46 papers

NM_022089.4

p.G504R

c.1510G>A

38 papers

NM_022089.4

p.G877R

c.2629G>A

36 papers

NM_022089.4

p.G1019delFs

c.3057delG

34 papers

NM_022089.4

p.F182L

c.546C>A

33 papers

NM_022089.4

p.G877R

c.2629G>C

32 papers

NM_022089.4

p.A746T

c.2236G>A

31 papers

NM_022089.4

p.T12M

c.35C>T

31 papers

NM_022089.4

p.F182L

c.544T>C

31 papers

NM_022089.4

p.F182L

c.546C>G

24 papers

NM_022089.4

p.A436Splc

c.1306+5G>A

24 papers

NM_022089.4

p.G533R

c.1597G>A