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

1–12 of 555 variants

24 papers

NM_001378687.1

p.R153*

c.457C>T

22 papers

NM_001378687.1

p.R799*

c.2395C>T

21 papers

NM_001378687.1

p.R468*

c.1402C>T

16 papers

NM_001378687.1

p.G309C

c.925G>T

14 papers

NM_001378687.1

p.A528P

c.1582G>C

14 papers

NM_001378687.1

p.D742Y

c.2224G>T

13 papers

NM_001378687.1

p.I580V

c.1738A>G

13 papers

NM_001378687.1

p.T709M

c.2126C>T

13 papers

NM_001378687.1

p.G789R

c.2365G>A

13 papers

NM_001378687.1

p.G789R

c.2365G>C

13 papers

NM_001378687.1

p.W795*

c.2384G>A

12 papers

NM_001378687.1

p.L173insFs

c.519dupA