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.F812_C814delins

c.2436_2440delinsGGCACACA

Surrounding Variants

2 papers

NM_001378687.1

p.F815_F818delFs

c.2445_2454del10

1 paper

NM_001378687.1

p.M810V

c.2428A>G

4 papers

NM_001378687.1

p.F818insFs

c.2454dupT

5 papers

NM_001378687.1

p.F818delFs

c.2454delT

1 paper

NM_001378687.1

p.T808A

c.2422A>G

1 paper

NM_001378687.1

p.D807insFs

c.2420dupA

1 paper

NM_001378687.1

p.T808delFs

c.2422_2423delAC

10 papers

NM_001378687.1

p.R806*

c.2416C>T

8 papers

NM_001378687.1

p.M820delFs

c.2460delG

1 paper

NM_001378687.1

p.I803_D807insFs

c.2408_2420dup13

4 papers

NM_001378687.1

p.A823E

c.2468C>A

2 papers

NM_001378687.1

p.A823V

c.2468C>T