Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD6
Variant:p.Q226R

CHCHD6

34 papers

Pfam Domains

MIC19_MIC25aa 31–188UCSCMICOS complex subunit MIC19/MIC25

Gene Aliases

HGNC Name

coiled-coil-helix-coiled-coil-helix domain containing 6

HGNC Alias Symbols

MGC13016; PPP1R23; CHCM1; Mic25; MICOS25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032343.3
p.Q226R
c.677A>G
Surrounding Variants
1 paper
NM_032343.3
p.V229M
c.685G>A
1 paper
NM_032343.3
p.A232T
c.694G>A
1 paper
NM_032343.3
p.R211G
c.631C>G
2 papers
NM_032343.3
p.Y208H
c.622T>C
1 paper
NM_032343.3
p.A202G
c.605C>G
1 paper
NM_032343.3
p.K234_G235Splc
c.702+47G>T
1 paper
NM_001320610.2
p.G200E
c.599G>A
1 paper
NM_032343.3
p.V196I
c.586G>A
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