Varaico: Literature-Extracted Genetic Variants

Gene:MCU
Variant:p.A2V

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
Selected Variant
1 paper
NM_138357.3
p.A2V
c.5C>T
Surrounding Variants
1 paper
NM_138357.3
p.A3T
c.7G>A
1 paper
NM_138357.3
p.R7G
c.19A>G
1 paper
NM_138357.3
p.S8T
c.22T>A
1 paper
NM_138357.3
p.L10P
c.29T>C
1 paper
NM_138357.3
p.R16R
c.48G>T
1 paper
NM_138357.3
p.G17R
c.49G>C
1 paper
NM_138357.3
p.G18C
c.52G>T
2 papers
NM_138357.3
p.G18G
c.54C>T
1 paper
NM_138357.3
p.G19D
c.56G>A
1 paper
NM_138357.3
p.A23T
c.67G>A
1 paper
NM_138357.3
p.A31S
c.91G>T
2 papers
NM_138357.3
p.G32G
c.96C>A
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