Varaico: Literature-Extracted Genetic Variants

ATP2A2

370 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 the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP...

Pfam Domains

Cation_ATPase_Naa 4–72UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 121–240UCSCP-type ATPase actuator domain

Cation_ATPaseaa 409–605UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 682–746UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 783–986UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

HGNC Previous Symbol

DAR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_170665.4

p.Y948fs

c.2842_2843fs

Surrounding Variants

2 papers

NM_170665.4

p.Y948delFs

c.2843_2844delAT

2 papers

NM_170665.4

p.L947R

c.2840T>G

1 paper

NM_170665.4

p.L945fs

c.2833_2834fs

1 paper

NM_170665.4

p.F944_L945delFs

c.2832_2833delCC

9 papers

NM_170665.4

p.H943R

c.2828A>G

1 paper

NM_170665.4

p.L942L

c.2826C>T

1 paper

NM_170665.4

p.P953_L954Splc

c.2859+1G>T

2 papers

NM_170665.4

p.P953_L954Splc

c.2859+2T>A

1 paper

NM_170665.4

p.M940V

c.2818A>G

1 paper

NM_170665.4

p.S935F

c.2804C>T

1 paper

NM_170665.4

p.V933A

c.2798T>C

2 papers

NM_170665.4

p.V933M

c.2797G>A