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.C774Splc

c.2321+8C>T

Surrounding Variants

1 paper

NM_005173.4

p.V773A

c.2318T>C

1 paper

NM_005173.4

p.V769A

c.2306T>C

1 paper

NM_005173.4

p.R751R

c.2253G>A

4 papers

NM_005173.4

p.A745D

c.2234C>A

1 paper

NM_005173.4

p.S742F

c.2225C>T

1 paper

NM_005173.4

p.S729L

c.2186C>T

1 paper

NM_005173.4

p.S729*

c.2186C>A

1 paper

NM_005173.4

p.T724T

c.2172G>A

1 paper

NM_005173.4

p.G717D

c.2150G>A

1 paper

NM_005173.4

p.K712delFs

c.2134delT

1 paper

NM_005173.4

p.V790A

c.2369T>C

1 paper

NM_005173.4

p.V795A

c.2384T>C