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

Selected Variant

1 paper

NM_005173.4

p.V842Splc

c.2525-55A>G

Surrounding Variants

1 paper

NM_005173.4

p.V842G

c.2525T>G

1 paper

NM_005173.4

p.V844L

c.2530G>T

1 paper

NM_005173.4

p.V844L

c.2530G>C

1 paper

NM_005173.4

p.A847V

c.2540C>T

1 paper

NM_005173.4

p.A851T

c.2551G>A

1 paper

NM_005173.4

p.A852T

c.2554G>A

1 paper

NM_005173.4

p.V842Splc

c.2525-146A>G

1 paper

NM_005173.4

p.V842Splc

c.2525-165G>C

1 paper

NM_005173.4

p.P863A

c.2587C>G

1 paper

NM_005173.4

p.P812A

c.2434C>G

1 paper

NM_005173.4

p.P811A

c.2431C>G

1 paper

NM_005173.4

p.G808A

c.2423G>C