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.L318Q

c.953T>A

Surrounding Variants

10 papers

NM_001378687.1

p.L318P

c.953T>C

2 papers

NM_001378687.1

p.A319delFs

c.956delC

1 paper

NM_001378687.1

p.A319V

c.956C>T

1 paper

NM_001378687.1

p.T317_L320del0

c.951_959del9

1 paper

NM_001378687.1

p.V322_R324del3

c.964_971del9

1 paper

NM_001199180.2

p.M357_K362delFs

c.1069_1084del16

1 paper

NM_001378687.1

p.V313M

c.937G>A

1 paper

NM_001378687.1

p.R324ins10

c.970_971ins30

4 papers

NM_001378687.1

p.I312T

c.935T>C

1 paper

NM_001378687.1

p.I312delFs

c.935delT

2 papers

NM_001378687.1

p.P311_L318del0

c.932_952del21

1 paper

NM_001378687.1

p.G309D

c.926G>A