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

2 papers

NM_005173.4

p.P160L

c.479C>T

Surrounding Variants

1 paper

NM_005173.4

p.R164C

c.490C>T

1 paper

NM_005173.4

p.R164L

c.491G>T

2 papers

NM_005173.4

p.R164H

c.491G>A

1 paper

NM_005173.4

p.G182Splc

c.544+1G>A

1 paper

NM_005173.4

p.G182Splc

c.544+7C>G

1 paper

NM_005173.4

p.V185L

c.553G>C

1 paper

NM_005173.4

p.S186P

c.556T>C

1 paper

NM_005173.4

p.E192D

c.576G>T

1 paper

NM_005173.4

p.E192D

c.576G>C

1 paper

NM_005173.4

p.D196G

c.587A>G

1 paper

NM_005173.4

p.R198K

c.593G>A

1 paper

NM_005173.4

p.V155Splc

c.463+14T>G