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

1–12 of 181 variants

5 papers

NM_001367549.1

p.R858H

c.2573G>A

4 papers

NM_001367549.1

p.L675V

c.2023T>G

3 papers

NM_001367549.1

p.L47del1

c.139_140delGAG

3 papers

NM_001367549.1

p.P456fs

c.1366_1367fs

3 papers

NM_001367549.1

p.Q514*

c.1540C>T

3 papers

NM_001367549.1

p.R520*

c.1558C>T

3 papers

NM_001367549.1

p.E552*

c.1654G>T

3 papers

NM_001367549.1

p.M850I

c.2550G>T

3 papers

NM_001367549.1

p.M850I

c.2550G>C

3 papers

NM_001367549.1

p.M850I

c.2550G>A

3 papers

NM_001367549.1

p.L956P

c.2867T>C

3 papers

NM_001367549.1

p.Q1134_I1135Splc

c.3402+1G>T