Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C2
Variant:p.G399R

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.G399R
c.1195G>A
Surrounding Variants
1 paper
NM_014861.4
p.G399R
c.1195G>C
1 paper
NM_014861.4
p.D379E
c.1137C>A
1 paper
NM_014861.4
p.D379E
c.1137C>G
2 papers
NM_014861.4
p.D379N
c.1135G>A
2 papers
NM_014861.4
p.V375I
c.1123G>A
1 paper
NM_014861.4
p.I360V
c.1078A>G
1 paper
NM_014861.4
p.V342I
c.1024G>A
1 paper
NM_014861.4
p.G406R
c.1216G>A
1 paper
NM_014861.4
p.G406R
c.1216G>C
2 papers
NM_014861.4
p.G411S
c.1231G>A
1 paper
NM_014861.4
p.T414S
c.1240A>T
1 paper
NM_014861.4
p.T414S
c.1241C>G
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