Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C2
Variant:p.R794W

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
3 papers
NM_014861.4
p.R794W
c.2380C>T
Surrounding Variants
1 paper
NM_014861.4
p.R794Q
c.2381G>A
1 paper
NM_001286527.3
p.P822L
c.2465C>T
2 papers
NM_001291454.2
p.R646W
c.1936C>T
NM_014861.4
p.R797W
c.2389C>T
1 paper
NM_014861.4
p.F789delFs
c.2366_2367delTC
1 paper
NM_014861.4
p.D787N
c.2359G>A
1 paper
NM_014861.4
p.P783P
c.2349C>T
1 paper
NM_014861.4
p.P783H
c.2348C>A
1 paper
NM_014861.4
p.S778Splc
c.2334-7G>A
1 paper
NM_014861.4
p.S812S
c.2436C>T
1 paper
NM_014861.4
p.E827_M828Splc
c.2481+6C>T
2 papers
NM_014861.4
p.E827_M828Splc
c.2482-2A>C
1 paper
NM_014861.4
p.M828L
c.2482A>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."