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.L434*

c.1301T>G

Surrounding Variants

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

2 papers

NM_001367549.1

p.R408G

c.1222A>G

1 paper

NM_001367549.1

p.Y407*

c.1221C>G

1 paper

NM_001367549.1

p.Y407*

c.1221C>A

1 paper

NM_001367549.1

p.L406R

c.1217T>G

1 paper

NM_001367549.1

p.D403N

c.1207G>A

1 paper

NM_001367549.1

p.R394S

c.1180C>A

1 paper

NM_001367549.1

p.G384Splc

c.1150+1G>A

2 papers

NM_001367549.1

p.T383T

c.1149A>G