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

4 papers

NM_001378687.1

p.G530R

c.1588G>C

Surrounding Variants

14 papers

NM_001378687.1

p.A528P

c.1582G>C

1 paper

NM_001378687.1

p.E532delFs

c.1595delA

1 paper

NM_001378687.1

p.L536R

c.1607T>G

1 paper

NM_001378687.1

p.T537R

c.1610C>G

1 paper

NM_001378687.1

p.L539P

c.1616T>C

1 paper

NM_001199180.2

p.L575delFs

c.1723delT

2 papers

NM_001378687.1

p.G543*

c.1627G>T

1 paper

NM_001378687.1

p.I544F

c.1630A>T

1 paper

NM_001378687.1

p.I544M

c.1632C>G

1 paper

NM_001378687.1

p.G551S

c.1651G>A

1 paper

NM_001378687.1

p.V552delFs

c.1656delG

1 paper

NM_001378687.1

p.E554*

c.1660G>T