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.N39D

c.115A>G

Surrounding Variants

1 paper

NM_005173.4

p.N39T

c.116A>C

1 paper

NM_005173.4

p.P8S

c.22C>T

1 paper

NM_005173.4

p.L6Q

c.17T>A

1 paper

NM_005173.4

p.H5delFs

c.15delA

1 paper

NM_005173.4

p.H5H

c.15T>C

1 paper

NM_005173.4

p.A4A

c.12G>C

1 paper

NM_005173.4

p.M1insFs

c.1dupA

1 paper

NM_005173.4

p.M1V

c.1A>G