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.A461delFs

c.1382delG

Surrounding Variants

1 paper

NM_022089.4

p.L462insFs

c.1385_1386insA

1 paper

NM_001141973.3

p.D458N

c.1372G>A

1 paper

NM_022089.4

p.R460W

c.1378C>T

1 paper

NM_022089.4

p.R460R

c.1378C>A

1 paper

NM_022089.4

p.L464fs

c.1390_1391fs

1 paper

NM_022089.4

p.V458I

c.1372G>A

2 papers

NM_022089.4

p.V467M

c.1399G>A

1 paper

NM_022089.4

p.N455K

c.1365T>G

1 paper

NM_022089.4

p.N455K

c.1365T>A

1 paper

NM_022089.4

p.P471A

c.1411C>G

1 paper

NM_022089.4

p.A472S

c.1414G>T

1 paper

NM_001141973.3

p.A467V

c.1400C>T