Varaico: Literature-Extracted Genetic Variants

ATP2A3

133 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 muscle cells. This enzyme catalyzes the hydrolysis of ATP couple...

Pfam Domains

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

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

Cation_ATPaseaa 409–606UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 684–747UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 784–987UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3

HGNC Alias Symbol

SERCA3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 203 variants

5 papers

NM_005173.4

p.V648M

c.1942G>A

4 papers

NM_005173.4

p.A745D

c.2234C>A

3 papers

NM_005173.4

p.D426G

c.1277A>G

3 papers

NM_005173.4

p.R656C

c.1966C>T

3 papers

NM_005173.4

p.R674H

c.2021G>A

2 papers

NM_005173.4

p.N39D

c.115A>G

2 papers

NM_005173.4

p.S132S

c.396G>A

2 papers

NM_005173.4

p.P160L

c.479C>T

2 papers

NM_005173.4

p.R164H

c.491G>A

2 papers

NM_005173.4

p.R251H

c.752G>A

2 papers

NM_005173.4

p.E255K

c.763G>A

2 papers

NM_005173.4

p.R258W

c.772C>T