Varaico: Literature-Extracted Genetic Variants

ATP2C1

218 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. D...

Pfam Domains

Cation_ATPase_Naa 26–94UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 133–249UCSCP-type ATPase actuator domain

Cation_ATPaseaa 400–551UCSCP-type ATPase, cytoplasmic domain N

Cation_ATPase_Caa 726–898UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase secretory pathway Ca2+ transporting 1

HGNC Previous Symbol

BCPM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378687.1

p.V556I

c.1666G>A

Surrounding Variants

1 paper

NM_001378687.1

p.T557delFs

c.1670_1671delCA

1 paper

NM_001378687.1

p.E554*

c.1660G>T

2 papers

NM_001378687.1

p.T558insFs

c.1673_1674ins4

1 paper

NM_001378687.1

p.T558I

c.1673C>T

1 paper

NM_001199180.2

p.L593_I594delFs

c.1779_1782del4

1 paper

NM_001378687.1

p.V552delFs

c.1656delG

1 paper

NM_001378687.1

p.G551S

c.1651G>A

8 papers

NM_001378687.1

p.S562*

c.1685C>A

9 papers

NM_001378687.1

p.S562*

c.1685C>G

1 paper

NM_001378687.1

p.I544M

c.1632C>G

1 paper

NM_001378687.1

p.I544F

c.1630A>T

2 papers

NM_001378687.1

p.G543*

c.1627G>T