Varaico: Literature-Extracted Genetic Variants

Gene:UQCC2
Variant:p.K71_Y72Splc

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
5 papers
NM_032340.4
p.K71_Y72Splc
c.214-3C>G
Surrounding Variants
1 paper
NM_032340.4
p.S79N
c.236G>A
1 paper
NM_032340.4
p.S81N
c.242G>A
1 paper
NM_032340.4
p.S84insFs
c.250_251ins4
1 paper
NM_032340.4
p.Y88C
c.263A>G
1 paper
NM_032340.4
p.I91M
c.273C>G
1 paper
NM_032340.4
p.L92L
c.274C>T
1 paper
NM_032340.4
p.L60L
c.180A>G
1 paper
NM_032340.4
p.S59S
c.177C>T
1 paper
NM_032340.4
p.D54E
c.162T>A
1 paper
NM_032340.4
p.E49E
c.147G>A
1 paper
NM_032340.4
p.I103M
c.309A>G
1 paper
NM_032340.4
p.M107I
c.321G>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."