Varaico: Literature-Extracted Genetic Variants

Gene:PHC2
Variant:p.V300V

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
1 paper
NM_001385109.1
p.V300V
c.900G>A
Surrounding Variants
1 paper
NM_001385109.1
p.R307ins15
c.920_921ins45
1 paper
NM_001385109.1
p.L310V
c.928C>G
1 paper
NM_001385109.1
p.R312Q
c.935G>A
1 paper
NM_001385109.1
p.T313A
c.937A>G
1 paper
NM_001385109.1
p.P321P
c.963C>G
1 paper
NM_001385109.1
p.A279D
c.836C>A
1 paper
NM_001385109.1
p.P276P
c.828T>C
3 papers
NM_001385109.1
p.P254S
c.760C>T
1 paper
NM_001385109.1
p.L252L
c.756G>C
1 paper
NM_001385109.1
p.L247P
c.740T>C
1 paper
NM_001385109.1
p.Q221E
c.661C>G
1 paper
NM_001385109.1
p.P216P
c.648C>G
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