Varaico: Literature-Extracted Genetic Variants

Gene:MCU
Variant:p.Q185*

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.Q185*
c.553C>T
Surrounding Variants
1 paper
NM_138357.3
p.E193K
c.577G>A
1 paper
NM_138357.3
p.T175A
c.523A>G
1 paper
NM_138357.3
p.L167F
c.499C>T
1 paper
NM_138357.3
p.R252W
c.754C>T
1 paper
NM_138357.3
p.E257A
c.770A>C
1 paper
NM_138357.3
p.E257V
c.770A>T
2 papers
NM_138357.3
p.S259A
c.775T>G
1 paper
NM_138357.3
p.S259F
c.776C>T
1 paper
NM_138357.3
p.D261A
c.782A>C
2 papers
NM_138357.3
p.D261E
c.783C>A
2 papers
NM_138357.3
p.D261E
c.783C>G
1 paper
NM_138357.3
p.E264Q
c.790G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."