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

4 papers

NM_001367549.1

p.L675V

c.2023T>G

Surrounding Variants

1 paper

NM_001367549.1

p.Q672Q

c.2016A>G

1 paper

NM_001367549.1

p.R684C

c.2050C>T

1 paper

NM_001367549.1

p.K696I

c.2087A>T

1 paper

NM_001367549.1

p.L697M

c.2089C>A

1 paper

NM_001367549.1

p.L661F

c.1981C>T

1 paper

NM_001367549.1

p.A654_P655insFs

c.1962_1963insGA

2 papers

NM_001367549.1

p.M651I

c.1953G>T

2 papers

NM_001367549.1

p.M651I

c.1953G>C

2 papers

NM_001367549.1

p.M651I

c.1953G>A

1 paper

NM_001367549.1

p.A649A

c.1947C>T

1 paper

NM_001367549.1

p.D644G

c.1931A>G

2 papers

NM_001367549.1

p.V637V

c.1911G>A