Varaico: Literature-Extracted Genetic Variants

Gene:MCU

MCU

52 papers

Pfam Domains

MCUaa 118–320UCSCMitochondrial calcium uniporter

Gene Aliases

HGNC Name

mitochondrial calcium uniporter

HGNC Previous Symbols

C10orf42; CCDC109A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
2 papers
NM_138357.3
p.G18G
c.54C>T
2 papers
NM_138357.3
p.G32G
c.96C>A
2 papers
NM_138357.3
p.S92A
c.274T>G
2 papers
NM_138357.3
p.D131A
c.392A>C
2 papers
NM_138357.3
p.D147A
c.440A>C
2 papers
NM_138357.3
p.S259A
c.775T>G
2 papers
NM_138357.3
p.D261E
c.783C>A
2 papers
NM_138357.3
p.D261E
c.783C>G
2 papers
NM_138357.3
p.E264A
c.791A>C
2 papers
NM_138357.3
p.E264D
c.792G>C
2 papers
NM_138357.3
p.E264D
c.792G>T
1 paper
NM_138357.3
p.A2V
c.5C>T
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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."