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.S132A

c.394T>G

Surrounding Variants

2 papers

NM_005173.4

p.S132S

c.396G>A

1 paper

NM_005173.4

p.V137V

c.411G>A

1 paper

NM_005173.4

p.E125K

c.373G>A

1 paper

NM_005173.4

p.P124P

c.372T>G

1 paper

NM_005173.4

p.R141C

c.421C>T

1 paper

NM_005173.4

p.I116_A118del0

c.346_354del9

1 paper

NM_005173.4

p.D144_I145del0

c.430_435del6

1 paper

NM_005173.4

p.I150T

c.449T>C

1 paper

NM_005173.4

p.R110C

c.328C>T

1 paper

NM_005173.4

p.E109D

c.327A>T

1 paper

NM_005173.4

p.V155Splc

c.463+14T>G

1 paper

NM_005173.4

p.Q108H

c.324G>T