Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C2
Variant:p.T83M

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
2 papers
NM_014861.4
p.T83M
c.248C>T
Surrounding Variants
1 paper
NM_014861.4
p.S81W
c.242C>G
1 paper
NM_014861.4
p.A88fs
c.262_263fs
1 paper
NM_014861.4
p.N92D
c.274A>G
1 paper
NM_014861.4
p.V95D
c.284T>A
2 papers
NM_014861.4
p.V102M
c.304G>A
1 paper
NM_014861.4
p.Y106*
c.318C>G
3 papers
NM_014861.4
p.A138T
c.412G>A
1 paper
NM_014861.4
p.V145L
c.433G>C
1 paper
NM_014861.4
p.I150M
c.450C>G
1 paper
NM_014861.4
p.Q151_E152Splc
c.453+1G>A
1 paper
NM_014861.4
p.P167S
c.499C>T
1 paper
NM_014861.4
p.E63Q
c.187G>C
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