Varaico: Literature-Extracted Genetic Variants

Gene:MCUR1

MCUR1

30 papers

Pfam Domains

CCDC90-likeaa 166–358UCSCCoiled-coil domain-containing protein 90-like

Gene Aliases

HGNC Name

mitochondrial calcium uniporter regulator 1

HGNC Previous Symbols

C6orf79; CCDC90A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
5 papers
NM_001031713.4
p.S108G
c.322A>G
2 papers
NM_001031713.4
p.T216A
c.646A>G
2 papers
NM_001031713.4
p.T349S
c.1045A>T
1 paper
NM_001031713.4
p.G7S
c.19G>A
1 paper
NM_001031713.4
p.G32G
c.96C>A
1 paper
NM_001031713.4
p.L45_S46Fs
c.134_136delinsCCFs
1 paper
NM_001031713.4
p.R60fs
c.178_179fs
1 paper
NM_001031713.4
p.S108delins
c.322_324delinsGGT
1 paper
NM_001031713.4
p.P114Q
c.341C>A
1 paper
NM_001031713.4
p.A119P
c.355G>C
1 paper
NM_001031713.4
p.A119T
c.355G>A
1 paper
NM_001031713.4
p.L133V
c.397C>G
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