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

5 papers

NM_170665.4

p.L590P

c.1769T>C

Surrounding Variants

1 paper

NM_170665.4

p.N589Y

c.1765A>T

1 paper

NM_170665.4

p.F592F

c.1776C>T

4 papers

NM_170665.4

p.E587_T588Splc

c.1762-1G>C

1 paper

NM_170665.4

p.G597S

c.1789G>A

1 paper

NM_170665.4

p.P601L

c.1802C>T

23 papers

NM_170665.4

p.P602L

c.1805C>T

4 papers

NM_170665.4

p.R603I

c.1808G>T

2 papers

NM_170665.4

p.A607delFs

c.1821delC

2 papers

NM_170665.4

p.S609del1

c.1825_1826delTCC

1 paper

NM_170665.4

p.S608fs

c.1822_1823fs

1 paper

NM_170665.4

p.K611R

c.1832A>G

2 papers

NM_170665.4

p.C613*

c.1839C>A