Varaico: Literature-Extracted Genetic Variants

Gene:MCU
Variant:p.D119A

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.D119A
c.356A>C
Surrounding Variants
1 paper
NM_138357.3
p.R120W
c.358C>T
1 paper
NM_138357.3
p.R120Q
c.359G>A
1 paper
NM_138357.3
p.G121R
c.361G>A
1 paper
NM_138357.3
p.G121R
c.361G>C
1 paper
NM_138357.3
p.D123Y
c.367G>T
2 papers
NM_138357.3
p.D131A
c.392A>C
2 papers
NM_138357.3
p.S92A
c.274T>G
1 paper
NM_138357.3
p.S87A
c.259T>G
1 paper
NM_138357.3
p.I141M
c.423A>G
2 papers
NM_138357.3
p.D147A
c.440A>C
1 paper
NM_138357.3
p.D148A
c.443A>C
1 paper
NM_138357.3
p.L167F
c.499C>T
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