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

5 papers

NM_001378687.1

p.S300Splc

c.900-1G>A

Surrounding Variants

1 paper

NM_001378687.1

p.S300Splc

c.900-1G>C

1 paper

NM_001378687.1

p.V303delFs

c.908delT

5 papers

NM_001378687.1

p.A304T

c.910G>A

10 papers

NM_001378687.1

p.A304S

c.910G>T

4 papers

NM_001378687.1

p.P307H

c.920C>A

11 papers

NM_001378687.1

p.P307L

c.920C>T

3 papers

NM_001378687.1

p.E308_G309del1

c.923_925delAAG

1 paper

NM_001378687.1

p.G309R

c.925G>C

16 papers

NM_001378687.1

p.G309C

c.925G>T

1 paper

NM_001378687.1

p.G309D

c.926G>A

3 papers

NM_001378687.1

p.G309V

c.926G>T

2 papers

NM_001378687.1

p.P311_L318del0

c.932_952del21