Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C2

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
1–12 of 147 variants
3 papers
NM_014861.4
p.A138T
c.412G>A
3 papers
NM_014861.4
p.M466L
c.1396A>C
3 papers
NM_014861.4
p.M466L
c.1396A>T
3 papers
NM_014861.4
p.R794W
c.2380C>T
2 papers
NM_014861.4
p.T83M
c.248C>T
2 papers
NM_014861.4
p.V102M
c.304G>A
2 papers
NM_014861.4
p.L194P
c.581T>C
2 papers
NM_014861.4
p.T210M
c.629C>T
2 papers
NM_014861.4
p.G263G
c.789A>G
2 papers
NM_014861.4
p.G313S
c.937G>A
2 papers
NM_014861.4
p.K318R
c.953A>G
2 papers
NM_014861.4
p.V375I
c.1123G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."