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

14 papers

NM_001378687.1

p.D742Y

c.2224G>T

Surrounding Variants

2 papers

NM_001378687.1

p.D742G

c.2225A>G

6 papers

NM_001378687.1

p.G743delFs

c.2228delG

2 papers

NM_001378687.1

p.P745insFs

c.2234dupC

10 papers

NM_001378687.1

p.P744R

c.2231C>G

1 paper

NM_001378687.1

p.P745fs

c.2233_2234fs

3 papers

NM_001378687.1

p.P745_A746insFs

c.2235_2236insC

1 paper

NM_001378687.1

p.I740_M741del1

c.2220_2222delTAT

7 papers

NM_001378687.1

p.A746T

c.2236G>A

3 papers

NM_001378687.1

p.A746V

c.2237C>T

1 paper

NM_001378687.1

p.Q747*

c.2239C>T

8 papers

NM_001378687.1

p.S748Splc

c.2243+2T>C

1 paper

NM_001199180.2

p.I768_L769delFs

c.2304_2305delTT