Varaico: Literature-Extracted Genetic Variants

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.Q183L

c.548A>T

Surrounding Variants

4 papers

NM_001385109.1

p.A145V

c.434C>T

1 paper

NM_001385109.1

p.P144_A145ins15

c.432_433ins45

1 paper

NM_001385109.1

p.S143F

c.428C>T

1 paper

NM_001385109.1

p.A131S

c.391G>T

1 paper

NM_001385109.1

p.S121N

c.362G>A

1 paper

NM_001385109.1

p.A101P

c.301G>C

1 paper

NM_001385109.1

p.A214A

c.642C>T

1 paper

NM_001385109.1

p.A214fs

c.640_641fs

1 paper

NM_001385109.1

p.P216P

c.648C>G

1 paper

NM_001385109.1

p.Q221E

c.661C>G

3 papers

NM_001385109.1

p.A81T

c.241G>A

1 paper

NM_001385109.1

p.A80T

c.238G>A