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

3 papers

NM_001367549.1

p.L956P

c.2867T>C

Surrounding Variants

1 paper

NM_001367549.1

p.L956V

c.2866C>G

2 papers

NM_001367549.1

p.S919A

c.2755T>G

2 papers

NM_001367549.1

p.G896R

c.2686G>C

2 papers

NM_001367549.1

p.G896R

c.2686G>A

1 paper

NM_001367549.1

p.A894S

c.2680G>T

1 paper

NM_001367549.1

p.C888R

c.2662T>C

1 paper

NM_001367549.1

p.C881Y

c.2642G>A

1 paper

NM_001367549.1

p.D972V

c.2915A>T

1 paper

NM_001367549.1

p.M983Splc

c.2947+157C>T

1 paper

NM_001367549.1

p.Q866Fs

c.2597_2598delinsGFs

5 papers

NM_001367549.1

p.R858H

c.2573G>A

1 paper

NM_001367549.1

p.R858C

c.2572C>T