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.R258W

c.772C>T

Surrounding Variants

2 papers

NM_005173.4

p.E255K

c.763G>A

1 paper

NM_005173.4

p.A263T

c.787G>A

2 papers

NM_005173.4

p.R251H

c.752G>A

1 paper

NM_005173.4

p.R251C

c.751C>T

2 papers

NM_005173.4

p.C268F

c.803G>T

1 paper

NM_005173.4

p.T247M

c.740C>T

1 paper

NM_005173.4

p.A270T

c.808G>A

1 paper

NM_005173.4

p.E245K

c.733G>A

1 paper

NM_005173.4

p.V273D

c.818T>A

1 paper

NM_005173.4

p.K234M

c.701A>T

1 paper

NM_005173.4

p.E231D

c.693G>T

1 paper

NM_005173.4

p.E231D

c.693G>C