Varaico: Literature-Extracted Genetic Variants

ATP2A1

221 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 683–747UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 784–987UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

HGNC Alias Symbol

SERCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004320.6

p.I348T

c.1043T>C

Surrounding Variants

1 paper

NM_004320.6

p.C349delFs

c.1045delT

6 papers

NM_004320.6

p.D351N

c.1051G>A

3 papers

NM_004320.6

p.D351A

c.1052A>C

1 paper

NM_004320.6

p.K352E

c.1054A>G

1 paper

NM_004320.6

p.C344Y

c.1031G>A

2 papers

NM_004320.6

p.T353A

c.1057A>G

2 papers

NM_004320.6

p.V339I

c.1015G>A

1 paper

NM_004320.6

p.N359I

c.1076A>T

1 paper

NM_004320.6

p.Q360*

c.1078C>T

1 paper

NM_004320.6

p.R325Q

c.974G>A

1 paper

NM_004320.6

p.R325W

c.973C>T

1 paper

NM_004320.6

p.R324H

c.971G>A