Varaico: Literature-Extracted Genetic Variants

ATP2A2

370 papers

RefSeq Summary

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP...

Pfam Domains

Cation_ATPase_Naa 4–72UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 121–240UCSCP-type ATPase actuator domain

Cation_ATPaseaa 409–605UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 682–746UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 783–986UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

HGNC Previous Symbol

DAR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170665.4

p.V155Splc

c.464-1G>C

Surrounding Variants

2 papers

NM_170665.4

p.D157E

c.471C>A

2 papers

NM_170665.4

p.D157E

c.471C>G

1 paper

NM_170665.4

p.P160H

c.479C>A

13 papers

NM_170665.4

p.P160L

c.479C>T

3 papers

NM_170665.4

p.A161D

c.482C>A

5 papers

NM_170665.4

p.R164G

c.490A>G

4 papers

NM_170665.4

p.R164S

c.492G>C

3 papers

NM_170665.4

p.R164S

c.492G>T

1 paper

NM_170665.4

p.T166I

c.497C>T

1 paper

NM_170665.4

p.I168fs

c.502_503fs

1 paper

NM_170665.4

p.L173_R174insFs

c.519_520insA

6 papers

NM_170665.4

p.Q177P

c.530A>C