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.M723K

c.2168T>A

Surrounding Variants

1 paper

NM_001378687.1

p.L722fs

c.2164_2165fs

1 paper

NM_001378687.1

p.T721K

c.2162C>A

1 paper

NM_001199180.2

p.T755delFs

c.2264delC

1 paper

NM_001378687.1

p.P726H

c.2177C>A

9 papers

NM_001378687.1

p.L722insFs

c.2164_2165ins4

1 paper

NM_001378687.1

p.S718L

c.2153C>T

1 paper

NM_001378687.1

p.L729V

c.2185C>G

1 paper

NM_001378687.1

p.L729fs

c.2185_2186fs

2 papers

NM_001378687.1

p.N730_M732del0

c.2189_2194del6

1 paper

NM_001199180.2

p.I751delFs

c.2251_2252delAT

1 paper

NM_001378687.1

p.A731del1

c.2191_2192delGCC

3 papers

NM_001378687.1

p.A731D

c.2192C>A