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.R533C

c.1597C>T

Surrounding Variants

1 paper

NM_005173.4

p.T534A

c.1600A>G

1 paper

NM_005173.4

p.G531R

c.1591G>C

1 paper

NM_005173.4

p.G531R

c.1591G>A

1 paper

NM_005173.4

p.R529R

c.1587C>T

1 paper

NM_005173.4

p.R529C

c.1585C>T

1 paper

NM_005173.4

p.L537fs

c.1609_1610fs

1 paper

NM_005173.4

p.P539L

c.1616C>T

1 paper

NM_005173.4

p.S541fs

c.1621_1622fs

1 paper

NM_005173.4

p.S541delFs

c.1623delG

1 paper

NM_005173.4

p.R542delFs

c.1626delC

1 paper

NM_005173.4

p.E519_S520insFs

c.1557_1558ins11

1 paper

NM_005173.4

p.R550W

c.1648C>T