Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD1

CHCHD1

16 papers

Pfam Domains

CHCHaa 45–79UCSCCHCH domain

Gene Aliases

HGNC Name

coiled-coil-helix-coiled-coil-helix domain containing 1

HGNC Previous Symbol

C10orf34

Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
1 paper
NM_203298.3
p.A2V
c.5C>T
1 paper
NM_203298.3
p.A11G
c.32C>G
1 paper
NM_203298.3
p.R12L
c.35G>T
1 paper
NM_203298.3
p.K40K
c.120G>A
1 paper
NM_203298.3
p.C55R
c.163T>C
1 paper
NM_203298.3
p.C66F
c.197G>T
1 paper
NM_203298.3
p.I70M
c.210C>G
1 paper
NM_203298.3
p.C76*
c.228T>A
1 paper
NM_203298.3
p.M86I
c.258G>A
1 paper
NM_203298.3
p.M86I
c.258G>C
1 paper
NM_203298.3
p.M86I
c.258G>T
1 paper
NM_203298.3
p.E91D
c.273A>T
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