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

3 papers

NM_022089.4

p.S1004R

c.3012C>G

Surrounding Variants

3 papers

NM_022089.4

p.S1004R

c.3012C>A

3 papers

NM_022089.4

p.S1004R

c.3010A>C

1 paper

NM_022089.4

p.Q1008R

c.3023A>G

6 papers

NM_022089.4

p.L1006_L1007del1

c.3017_3019delGCA

3 papers

NM_022089.4

p.L1006_L1007del2

c.3016_3020del6

1 paper

NM_022089.4

p.V999M

c.2995G>A

1 paper

NM_022089.4

p.S998R

c.2994C>G

1 paper

NM_022089.4

p.S998R

c.2994C>A

1 paper

NM_022089.4

p.S998R

c.2992A>C

1 paper

NM_022089.4

p.L996P

c.2987T>C

1 paper

NM_022089.4

p.G1014C

c.3040G>T

12 papers

NM_022089.4

p.G1014S

c.3040G>A