Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD3
Variant:p.K175Splc

CHCHD3

30 papers

RefSeq Summary

The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions i...

Pfam Domains

MIC19_MIC25aa 29–174UCSCMICOS complex subunit MIC19/MIC25

Gene Aliases

HGNC Name

coiled-coil-helix-coiled-coil-helix domain containing 3

HGNC Alias Symbols

FLJ20420; MINOS3; PPP1R22; Mic19; MICOS19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017812.4
p.K175Splc
c.524+1502C>G
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