Varaico: Literature-Extracted Genetic Variants

Gene:COX4I1
Variant:p.K101N

COX4I1

92 papers

RefSeq Summary

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxy...

Pfam Domains

COX4aa 30–168UCSCCytochrome c oxidase subunit IV

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 4I1

HGNC Previous Symbol

COX4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001861.6
p.K101N
c.303G>T
Surrounding Variants
5 papers
NM_001861.6
p.K101N
c.303G>C
3 papers
NM_001861.6
p.K101_T102delins
c.303_304delinsTT
1 paper
NM_001861.6
p.W100R
c.298T>C
1 paper
NM_001861.6
p.V104insFs
c.311_312insAT
1 paper
NM_001861.6
p.V104_A107delFs
c.312_321del10
1 paper
NM_001861.6
p.V104_M108delins
c.312_322delinsAT
1 paper
NM_001861.6
p.I111_G112delFs
c.331_334del4
1 paper
NM_001861.6
p.T114A
c.340A>G
1 paper
NM_001861.6
p.I118T
c.353T>C
1 paper
NM_001861.6
p.L81Splc
c.241+5G>A
1 paper
NM_001861.6
p.E80K
c.238G>A
1 paper
NM_001861.6
p.S72N
c.215G>A
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