Varaico: Literature-Extracted Genetic Variants

Gene:PHC2
Variant:p.D471N

PHC2

66 papers

RefSeq Summary

In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimer...

Pfam Domains

zf-FCS_1aa 612–641UCSCZinc finger, FCS-type
PHC2_SAM_assocaa 642–761UCSCUnstructured region on Polyhomeotic-like protein 1 and 2
SAM_1aa 764–828UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

polyhomeotic homolog 2

HGNC Previous Symbol

EDR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001385109.1
p.D471N
c.1411G>A
Surrounding Variants
3 papers
NM_001385109.1
p.E475K
c.1423G>A
1 paper
NM_001385109.1
p.V476M
c.1426G>A
1 paper
NM_001385109.1
p.H519L
c.1556A>T
1 paper
NM_001385109.1
p.Q457*
c.1369C>T
1 paper
NM_001385109.1
p.V440M
c.1318G>A
1 paper
NM_001385109.1
p.E438K
c.1312G>A
1 paper
NM_001385109.1
p.P410S
c.1228C>T
1 paper
NM_001385109.1
p.A379T
c.1135G>A
3 papers
NM_001385109.1
p.R367Q
c.1100G>A
1 paper
NM_001385109.1
p.K342E
c.1024A>G
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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."