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.S573_Q574delFs

c.1717_1721del5

Surrounding Variants

1 paper

NM_001378687.1

p.D572H

c.1714G>C

1 paper

NM_001378687.1

p.Q574E

c.1720C>G

3 papers

NM_001378687.1

p.Q574*

c.1720C>T

1 paper

NM_001378687.1

p.G571A

c.1712G>C

8 papers

NM_001378687.1

p.E575delFs

c.1723delG

11 papers

NM_001378687.1

p.T570I

c.1709C>T

1 paper

NM_001199180.2

p.A611delFs

c.1831delG

1 paper

NM_001378687.1

p.A577E

c.1730C>A

1 paper

NM_001378687.1

p.A577V

c.1730C>T

1 paper

NM_001378687.1

p.A579A

c.1737A>G

1 paper

NM_001378687.1

p.I580del1

c.1738_1739delATC

13 papers

NM_001378687.1

p.I580V

c.1738A>G