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

2 papers

NM_001378687.1

p.M686Splc

c.2058-17T>C

Surrounding Variants

1 paper

NM_001378687.1

p.M686delFs

c.2058delG

4 papers

NM_001378687.1

p.M686Splc

c.2058-1G>A

4 papers

NM_001378687.1

p.M686Splc

c.2058-1G>C

1 paper

NM_001199180.2

p.S721_A722insFs

c.2161_2164dup4

1 paper

NM_001378687.1

p.E690_G692del0

c.2068_2076del9

1 paper

NM_001378687.1

p.E690K

c.2068G>A

1 paper

NM_001378687.1

p.E690insFs

c.2070dupA

5 papers

NM_001378687.1

p.E690*

c.2068G>T

1 paper

NM_001378687.1

p.E691fs

c.2071_2072fs

1 paper

NM_001378687.1

p.E691A

c.2072A>C

1 paper

NM_001378687.1

p.G692S

c.2074G>A

1 paper

NM_001199180.2

p.Y730_N732del0

c.2189_2194del6