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.W460R

c.1378T>C

Surrounding Variants

1 paper

NM_001378687.1

p.W460R

c.1378T>A

7 papers

NM_001378687.1

p.V463G

c.1388T>G

1 paper

NM_001199180.2

p.F488_A496del0

c.1464_1487del24

21 papers

NM_001378687.1

p.R468*

c.1402C>T

1 paper

NM_001378687.1

p.R468P

c.1403G>C

1 paper

NM_001199180.2

p.T503_Q504delFs

c.1508_1511del4

1 paper

NM_001378687.1

p.A450T

c.1348G>A

1 paper

NM_001378687.1

p.A450S

c.1348G>T

4 papers

NM_001378687.1

p.Q471H

c.1413G>C

3 papers

NM_001378687.1

p.Q471H

c.1413G>T

1 paper

NM_001378687.1

p.R448*

c.1342A>T

1 paper

NM_001378687.1

p.I447M

c.1341C>G