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.G722D

c.2165G>A

Surrounding Variants

1 paper

NM_170665.4

p.T723I

c.2168C>T

2 papers

NM_170665.4

p.A724insFs

c.2170dupG

1 paper

NM_170665.4

p.A724fs

c.2170_2171fs

6 papers

NM_170665.4

p.A724A

c.2172G>A

1 paper

NM_170665.4

p.G720fs

c.2158_2159fs

8 papers

NM_170665.4

p.M719I

c.2157G>A

7 papers

NM_170665.4

p.M719I

c.2157G>C

7 papers

NM_170665.4

p.M719I

c.2157G>T

2 papers

NM_170665.4

p.G720delFs

c.2158delG

2 papers

NM_170665.4

p.M719fs

c.2155_2156fs

1 paper

NM_170665.4

p.V725V

c.2175G>A

1 paper

NM_170665.4

p.A726V

c.2177C>T