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.R704insFs

c.2110dupA

Surrounding Variants

6 papers

NM_001378687.1

p.R704insFs

c.2111_2112insA

1 paper

NM_001378687.1

p.F702I

c.2104T>A

1 paper

NM_001199180.2

p.Q740_L741del1

c.2220_2222delGCT

1 paper

NM_001199182.2

p.L702P

c.2105T>C

2 papers

NM_001378687.1

p.I699delFs

c.2095_2096delAT

1 paper

NM_001199180.2

p.T743delFs

c.2228delC

13 papers

NM_001378687.1

p.T709M

c.2126C>T

6 papers

NM_001378687.1

p.T709Splc

c.2126+1G>A

2 papers

NM_001378687.1

p.T709Splc

c.2126+5G>A

1 paper

NM_001199180.2

p.Y730_N732del0

c.2189_2194del6

1 paper

NM_001378687.1

p.G692S

c.2074G>A

1 paper

NM_001378687.1

p.E691A

c.2072A>C