Varaico: Literature-Extracted Genetic Variants

Gene:UQCC2
Variant:p.F39_E41delins

UQCC2

72 papers

RefSeq Summary

This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through mod...

Pfam Domains

UQCC2_CBP6aa 6–86UCSCComplex III assembly factor UQCC2/CBP6

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase complex assembly factor 2

HGNC Previous Symbols

C6orf125; MNF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032340.4
p.F39_E41delins
c.116_122delinsC
Surrounding Variants
1 paper
NM_032340.4
p.F39V
c.115T>G
1 paper
NM_032340.4
p.A38T
c.112G>A
1 paper
NM_032340.4
p.A36del1
c.106_108delTGC
1 paper
NM_032340.4
p.V35A
c.104T>C
1 paper
NM_032340.4
p.E41_Q46del0
c.121_138del18
1 paper
NM_032340.4
p.V35L
c.103G>T
1 paper
NM_032340.4
p.V35I
c.103G>A
1 paper
NM_032340.4
p.A29D
c.86C>A
1 paper
NM_032340.4
p.G24A
c.71G>C
1 paper
NM_032340.4
p.G24S
c.70G>A
1 paper
NM_032340.4
p.R23fs
c.67_68fs
1 paper
NM_032340.4
p.E20*
c.58G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."