Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD5

CHCHD5

23 papers

Pfam Domains

CX9Caa 5–49UCSCCHCH-CHCH-like Cx9C, IMS import disulfide relay-system,
CHCHaa 58–92UCSCCHCH domain

Gene Aliases

HGNC Name

coiled-coil-helix-coiled-coil-helix domain containing 5

HGNC Alias Symbols

MGC11104; MIC14; MIX14

Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
1 paper
NM_032309.4
p.R10C
c.28C>T
1 paper
NM_032309.4
p.Y11F
c.32A>T
1 paper
NM_032309.4
p.A24insFs
c.70_71insA
1 paper
NM_032309.4
p.A24V
c.71C>T
1 paper
NM_032309.4
p.R32W
c.94C>T
1 paper
NM_032309.4
p.Q43R
c.128A>G
1 paper
NM_032309.4
p.A59V
c.176C>T
1 paper
NM_032309.4
p.P61L
c.182C>T
1 paper
NM_032309.4
p.E67K
c.199G>A
1 paper
NM_032309.4
p.R70*
c.208C>T
1 paper
NM_032309.4
p.R70Q
c.209G>A
1 paper
NM_032309.4
p.R85C
c.253C>T
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