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.D815N

c.2443G>A

Surrounding Variants

3 papers

NM_004320.6

p.D815A

c.2444A>C

2 papers

NM_004320.6

p.L814P

c.2441T>C

4 papers

NM_004320.6

p.D813A

c.2438A>C

2 papers

NM_004320.6

p.D813N

c.2437G>A

1 paper

NM_004320.6

p.M817R

c.2450T>G

1 paper

NM_004320.6

p.P812A

c.2434C>G

2 papers

NM_004320.6

p.D818N

c.2452G>A

3 papers

NM_004320.6

p.D818A

c.2453A>C

1 paper

NM_004320.6

p.P811T

c.2431C>A

3 papers

NM_004320.6

p.R819fs

c.2455_2456fs

1 paper

NM_004320.6

p.P811A

c.2431C>G

1 paper

NM_004320.6

p.R819C

c.2455C>T