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

2 papers

NM_001367549.1

p.P456delFs

c.1367delG

Surrounding Variants

3 papers

NM_001367549.1

p.P456fs

c.1366_1367fs

1 paper

NM_001367549.1

p.A457insFs

c.1371dupA

1 paper

NM_001367549.1

p.I444M

c.1332C>G

1 paper

NM_001367549.1

p.P483L

c.1448C>T

1 paper

NM_001367549.1

p.Q491*

c.1471C>T

1 paper

NM_001367549.1

p.C496G

c.1486T>G

2 papers

NM_001367549.1

p.D498N

c.1492G>A

1 paper

NM_001367549.1

p.L434*

c.1301T>G

1 paper

NM_001367549.1

p.L434*

c.1301T>A

1 paper

NM_001367549.1

p.A419V

c.1256C>T

1 paper

NM_001367549.1

p.A410S

c.1228G>T

1 paper

NM_001367549.1

p.A410P

c.1228G>C