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.R520*

c.1558C>T

Surrounding Variants

1 paper

NM_001367549.1

p.N530K

c.1590T>G

1 paper

NM_001367549.1

p.N530K

c.1590T>A

1 paper

NM_001367549.1

p.H546Y

c.1636C>T

3 papers

NM_001367549.1

p.E552*

c.1654G>T

1 paper

NM_001367549.1

p.E577*

c.1729G>T

1 paper

NM_001367549.1

p.E578_E579ins*I*

c.1732_1736ins9

1 paper

NM_001367549.1

p.E578V

c.1733A>T

1 paper

NM_001367549.1

p.R592C

c.1774C>T

1 paper

NM_001367549.1

p.V590_T602del13

c.1768_1805del39

1 paper

NM_001367549.1

p.R520*

c.1558C>T

3 papers

NM_001367549.1

p.Q514*

c.1540C>T

1 paper

NM_001367549.1

p.W511*

c.1533G>A