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.E797D

c.2391G>C

Surrounding Variants

10 papers

NM_001378687.1

p.W795*

c.2385G>A

13 papers

NM_001378687.1

p.W795*

c.2384G>A

1 paper

NM_001378687.1

p.V793I

c.2377G>A

3 papers

NM_001378687.1

p.F792fs

c.2374_2375fs

8 papers

NM_001199182.2

p.T785_L786delFs

c.2355_2358del4

NM_001378687.1

p.F792_V793delFs

c.2375_2378del4

1 paper

NM_001199182.2

p.T785_L786del2

c.2353_2357del6

13 papers

NM_001378687.1

p.G789R

c.2365G>A

13 papers

NM_001378687.1

p.G789R

c.2365G>C

1 paper

NM_001199180.2

p.I820delFs

c.2460delT

1 paper

NM_001378687.1

p.I786delFs

c.2357_2358delTT

1 paper

NM_001378687.1

p.I785_I786delFs

c.2355_2358del4

1 paper

NM_001199180.2

p.I818delFs

c.2454delA