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

3 papers

NM_005173.4

p.R656C

c.1966C>T

Surrounding Variants

5 papers

NM_005173.4

p.V648M

c.1942G>A

1 paper

NM_005173.4

p.R667C

c.1999C>T

1 paper

NM_005173.4

p.R671C

c.2011C>T

1 paper

NM_005173.4

p.R671H

c.2012G>A

2 papers

NM_005173.4

p.R674C

c.2020C>T

3 papers

NM_005173.4

p.R674H

c.2021G>A

1 paper

NM_005173.4

p.F676insFs

c.2026_2027insG

1 paper

NM_005173.4

p.A634T

c.1900G>A

1 paper

NM_005173.4

p.N695S

c.2084A>G

1 paper

NM_005173.4

p.Y615F

c.1844A>T

1 paper

NM_005173.4

p.A609S

c.1825G>T

1 paper

NM_005173.4

p.R604*

c.1810C>T