Varaico: Literature-Extracted Genetic Variants

Gene:MCUR1
Variant:p.T216A

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
Selected Variant
2 papers
NM_001031713.4
p.T216A
c.646A>G
Surrounding Variants
1 paper
NM_001031713.4
p.F217V
c.649T>G
1 paper
NM_001031713.4
p.A225V
c.674C>T
1 paper
NM_001031713.4
p.E247_K248Splc
c.741+1G>A
1 paper
NM_001031713.4
p.K283R
c.848A>G
1 paper
NM_001031713.4
p.E176G
c.527A>G
1 paper
NM_001031713.4
p.E139Splc
c.416-115G>T
1 paper
NM_001031713.4
p.A305S
c.913G>T
1 paper
NM_001031713.4
p.R309Q
c.926G>A
1 paper
NM_001031713.4
p.I318N
c.953T>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."