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

11 papers

NM_001378687.1

p.L341P

c.1022T>C

Surrounding Variants

2 papers

NM_001378687.1

p.G342Splc

c.1024+1G>A

1 paper

NM_001378687.1

p.I337_E339del3

c.1009_1016del9

1 paper

NM_001378687.1

p.P336S

c.1006C>T

9 papers

NM_001378687.1

p.L335P

c.1004T>C

8 papers

NM_001378687.1

p.K334delFs

c.1001delA

1 paper

NM_001378687.1

p.A330G

c.989C>G

1 paper

NM_001199180.2

p.R363_A364delFs

c.1089_1092del4

1 paper

NM_001199180.2

p.R363insFs

c.1087dupA

1 paper

NM_001378687.1

p.R324ins10

c.970_971ins30

1 paper

NM_001199180.2

p.M357_K362delFs

c.1069_1084del16

1 paper

NM_001378687.1

p.V322_R324del3

c.964_971del9

1 paper

NM_001378687.1

p.A319V

c.956C>T