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_001199180.2

p.V792_I793delFs

c.2375_2378del4

Surrounding Variants

8 papers

NM_001378687.1

p.D755delFs

c.2264delA

1 paper

NM_001199180.2

p.E786D

c.2358A>C

1 paper

NM_001199180.2

p.E786D

c.2358A>T

1 paper

NM_001199180.2

p.E786delFs

c.2357_2358delAA

1 paper

NM_001378687.1

p.V751fs

c.2251_2252fs

2 papers

NM_001378687.1

p.V751delFs

c.2251_2252delGT

1 paper

NM_001378687.1

p.G750E

c.2249G>A

9 papers

NM_001378687.1

p.L749R

c.2246T>G

1 paper

NM_001378687.1

p.S748Splc

c.2244-1G>A

2 papers

NM_001378687.1

p.D768_S769delFs

c.2304_2305delCA

4 papers

NM_001378687.1

p.L775L

c.2323T>C

1 paper

NM_001199180.2

p.V815_I818delFs

c.2445_2454del10