Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD7
Variant:p.M1_P2insFs

CHCHD7

15 papers

Pfam Domains

COX6Baa 8–65UCSCCytochrome oxidase c subunit VIb

Gene Aliases

HGNC Name

coiled-coil-helix-coiled-coil-helix domain containing 7

HGNC Alias Symbols

MGC2217; COX23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001011671.3
p.M1_P2insFs
c.3_4insA
Surrounding Variants
1 paper
NM_001011671.3
p.P2L
c.5C>T
1 paper
NM_001011671.3
p.T5I
c.14C>T
1 paper
NM_001011671.3
p.Q6K
c.16C>A
1 paper
NM_001011671.3
p.P15T
c.43C>A
1 paper
NM_001011671.3
p.T39insFs
c.116_117ins4
2 papers
NM_001011671.3
p.R43R
c.129G>A
1 paper
NM_001011671.3
p.W51C
c.153G>C
1 paper
NM_001011671.3
p.M56I
c.168G>A
1 paper
NM_001011671.3
p.G62V
c.185G>T
1 paper
NM_001011671.3
p.T69M
c.206C>T
1 paper
NM_001011671.3
p.E75*
c.223G>T
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