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.I441T

c.1322T>C

Surrounding Variants

3 papers

NM_022089.4

p.I441F

c.1321A>T

3 papers

NM_022089.4

p.L437V

c.1309C>G

7 papers

NM_022089.4

p.R449*

c.1345C>T

NM_001141973.3

p.R444*

c.1330C>T

13 papers

NM_022089.4

p.R449Q

c.1346G>A

NM_001141973.3

p.R444Q

c.1331G>A

1 paper

NM_022089.4

p.R451_V452Splc

c.1353+5G>A

24 papers

NM_022089.4

p.A436Splc

c.1306+5G>A

2 papers

NM_022089.4

p.L435del1

c.1303_1304delCAG

1 paper

NM_022089.4

p.L432V

c.1294C>G

1 paper

NM_022089.4

p.A431V

c.1292C>T

1 paper

NM_022089.4

p.A431T

c.1291G>A

1 paper

NM_022089.4

p.A430T

c.1288G>A

1 paper

NM_022089.4

p.N455K

c.1365T>G