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

12 papers

NM_001378687.1

p.L173insFs

c.519dupA

Surrounding Variants

3 papers

NM_001378687.1

p.R174delFs

c.520delC

1 paper

NM_001378687.1

p.R174G

c.520C>G

1 paper

NM_001378687.1

p.R174fs

c.520_521fs

1 paper

NM_001378687.1

p.A171V

c.512C>T

2 papers

NM_001378687.1

p.E177A

c.530A>C

1 paper

NM_001378687.1

p.V169D

c.506T>A

2 papers

NM_001378687.1

p.E177_A178Splc

c.531+2T>A

7 papers

NM_001378687.1

p.S164delFs

c.490delT

1 paper

NM_001378687.1

p.T160fs

c.478_479fs

3 papers

NM_001378687.1

p.T160insFs

c.478_479insA

1 paper

NM_001378687.1

p.T160delFs

c.479_480delCA

1 paper

NM_001378687.1

p.D159Y

c.475G>T