Varaico: Literature-Extracted Genetic Variants

Gene:PCGF6
Variant:p.E99del1

PCGF6

39 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein co...

Pfam Domains

zf-C3HC4_2aa 133–172UCSCZinc finger, C3HC4 type (RING finger)
RAWULaa 275–325UCSCRAWUL domain RING finger- and WD40-associated ubiquitin-like

Gene Aliases

HGNC Name

polycomb group ring finger 6

HGNC Previous Symbol

RNF134

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001011663.2
p.E99del1
c.295_296delCTC
Surrounding Variants
1 paper
NM_001011663.2
p.E95E
c.285G>A
1 paper
NM_001011663.2
p.E88del1
c.262_263delCTC
1 paper
NM_001011663.2
p.L84_E85ins6
c.250_254ins18
1 paper
NM_001011663.2
p.E118K
c.352G>A
2 papers
NM_001011663.2
p.E83_L84ins6
c.247_251ins18
1 paper
NM_001011663.2
p.E80_D81ins6
c.238_242ins18
1 paper
NM_001011663.2
p.R68_S69del2
c.202_206del6
1 paper
NM_001011663.2
p.S69N
c.206G>A
1 paper
NM_001011663.2
p.G52E
c.155G>A
1 paper
NM_001011663.2
p.G44E
c.131G>A
1 paper
NM_001011663.2
p.P32L
c.95C>T
2 papers
NM_001011663.2
p.V29A
c.86T>C
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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."