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.L886L

c.2656C>T

Surrounding Variants

2 papers

NM_001141974.3

p.L842P

c.2525T>C

3 papers

NM_022089.4

p.L886L

c.2658G>A

5 papers

NM_022089.4

p.A885D

c.2654C>A

1 paper

NM_022089.4

p.A880_G884del0

c.2640_2651del12

1 paper

NM_022089.4

p.A888V

c.2663C>T

1 paper

NM_022089.4

p.N881I

c.2642A>T

1 paper

NM_022089.4

p.N881T

c.2642A>C

1 paper

NM_022089.4

p.A880S

c.2638G>T

8 papers

NM_022089.4

p.G892D

c.2675G>A

8 papers

NM_022089.4

p.G879G

c.2637C>T

2 papers

NM_022089.4

p.S894L

c.2681C>T

34 papers

NM_022089.4

p.G877R

c.2629G>C

NM_001141973.3

p.G872R

c.2614G>C