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

1–12 of 387 variants

8 papers

NM_004320.6

p.R164Q

c.491G>A

7 papers

NM_004320.6

p.G211V

c.632G>T

6 papers

NM_004320.6

p.D351N

c.1051G>A

6 papers

NM_004320.6

p.P789L

c.2366C>T

6 papers

NM_004320.6

p.R822insFs

c.2464dupC

5 papers

NM_004320.6

p.E34*

c.100G>T

5 papers

NM_004320.6

p.G286V

c.857G>T

5 papers

NM_004320.6

p.R822fs

c.2464_2465fs

4 papers

NM_004320.6

p.N39D

c.115A>G

4 papers

NM_004320.6

p.P147delFs

c.440delC

4 papers

NM_004320.6

p.R164*

c.490C>T

4 papers

NM_004320.6

p.E309Q

c.925G>C