Varaico: Literature-Extracted Genetic Variants

ATP13A3

112 papers

RefSeq Summary

ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OM...

Pfam Domains

P5-ATPaseaa 13–150UCSCP5-type ATPase cation transporter

Cation_ATPase_Naa 168–226UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 266–397UCSCP-type ATPase actuator domain

Cation_ATPaseaa 607–729UCSCP-type ATPase, cytoplasmic domain N

Gene Aliases

HGNC Name

ATPase 13A3

HGNC Alias Symbol

AFURS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001367549.1

p.L89F

c.265C>T

Surrounding Variants

1 paper

NM_001367549.1

p.R87H

c.260G>A

1 paper

NM_001367549.1

p.T93_Y94insT

c.277_281ins3

1 paper

NM_001367549.1

p.Y94D

c.280T>G

1 paper

NM_001367549.1

p.Y94H

c.280T>C

1 paper

NM_001367549.1

p.A84T

c.250G>A

1 paper

NM_001367549.1

p.Y94*

c.282C>G

1 paper

NM_001367549.1

p.Y94*

c.282C>A

1 paper

NM_001367549.1

p.P95S

c.283C>T

1 paper

NM_001367549.1

p.P95P

c.285A>G

1 paper

NM_001367549.1

p.V96V

c.288T>G

1 paper

NM_001367549.1

p.N104Y

c.310A>T

1 paper

NM_001367549.1

p.I115insFs

c.344dupT