Varaico: Literature-Extracted Genetic Variants

Gene:UQCC1
Variant:p.K89E

UQCC1

33 papers

RefSeq Summary

This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast gr...

Pfam Domains

Ubiq_cyt_C_chapaa 135–275UCSCUbiquinol-cytochrome C chaperone

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase complex assembly factor 1

HGNC Previous Symbol

C20orf44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018244.5
p.K89E
c.265A>G
Surrounding Variants
1 paper
NM_018244.5
p.K95*
c.283A>T
1 paper
NM_018244.5
p.T78I
c.233C>T
1 paper
NM_018244.5
p.R74C
c.220C>T
1 paper
NM_018244.5
p.Q65K
c.193C>A
6 papers
NM_018244.5
p.R51Q
c.152G>A
1 paper
NM_018244.5
p.W44S
c.131G>C
1 paper
NM_018244.5
p.Q43_W44Splc
c.130-1G>T
1 paper
NM_018244.5
p.L118L
c.352C>T
1 paper
NM_018244.5
p.E132*
c.394G>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."