Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C2
Variant:p.D215Y

ATP2C2

110 papers

Pfam Domains

Cation_ATPase_Naa 58–125UCSCCation transporter/ATPase, N-terminus
E1-E2_ATPaseaa 164–278UCSCP-type ATPase actuator domain
Cation_ATPaseaa 431–581UCSCP-type ATPase, cytoplasmic domain N
Cation_ATPase_Caa 756–929UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase secretory pathway Ca2+ transporting 2

HGNC Alias Symbols

KIAA0703; SPCA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014861.4
p.D215Y
c.643G>T
Surrounding Variants
2 papers
NM_014861.4
p.T210M
c.629C>T
1 paper
NM_014861.4
p.G221R
c.661G>A
1 paper
NM_014861.4
p.G221R
c.661G>C
1 paper
NM_014861.4
p.G221W
c.661G>T
1 paper
NM_014861.4
p.E222fs
c.664_665fs
1 paper
NM_014861.4
p.E222A
c.665A>C
1 paper
NM_014861.4
p.T250I
c.749C>T
1 paper
NM_014861.4
p.G257G
c.771C>T
2 papers
NM_014861.4
p.G263G
c.789A>G
1 paper
NM_014861.4
p.S268P
c.802T>C
1 paper
NM_014861.4
p.L287F
c.861G>C
1 paper
NM_014861.4
p.G304R
c.910G>C
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