Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C2
Variant:p.G197E

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.G197E
c.590G>A
Surrounding Variants
1 paper
NM_014861.4
p.I200F
c.598A>T
2 papers
NM_014861.4
p.L194P
c.581T>C
1 paper
NM_014861.4
p.S193_L194delFs
c.577_580del4
1 paper
NM_014861.4
p.E208V
c.623A>T
1 paper
NM_014861.4
p.P167S
c.499C>T
1 paper
NM_014861.4
p.Q151_E152Splc
c.453+1G>A
1 paper
NM_014861.4
p.I150M
c.450C>G
1 paper
NM_014861.4
p.V145L
c.433G>C
2 papers
NM_014861.4
p.T210M
c.629C>T
1 paper
NM_014861.4
p.D215Y
c.643G>T
1 paper
NM_014861.4
p.G221R
c.661G>A
1 paper
NM_014861.4
p.G221R
c.661G>C
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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."