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

8 papers

NM_170665.4

p.R750Q

c.2249G>A

Surrounding Variants

4 papers

NM_170665.4

p.R750W

c.2248C>T

4 papers

NM_170665.4

p.G749V

c.2246G>T

9 papers

NM_170665.4

p.G749R

c.2245G>A

9 papers

NM_170665.4

p.G749R

c.2245G>C

2 papers

NM_170665.4

p.I752_Y753del1

c.2255_2257delTCT

1 paper

NM_170665.4

p.Y753del1

c.2257_2258delTAC

3 papers

NM_170665.4

p.Y753fs

c.2257_2258fs

1 paper

NM_170665.4

p.N755del1

c.2263_2264delAAC

6 papers

NM_170665.4

p.A745D

c.2234C>A

3 papers

NM_170665.4

p.Q758*

c.2272C>T

1 paper

NM_170665.4

p.Q758H

c.2274G>C

1 paper

NM_170665.4

p.Q758H

c.2274G>T