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

1–12 of 51 variants

4 papers

NM_001385109.1

p.A145V

c.434C>T

3 papers

NM_001385109.1

p.A81T

c.241G>A

3 papers

NM_001385109.1

p.P254S

c.760C>T

3 papers

NM_001385109.1

p.R367Q

c.1100G>A

3 papers

NM_001385109.1

p.E475K

c.1423G>A

2 papers

NM_001385109.1

p.D471N

c.1411G>A

1 paper

NM_001385109.1

p.R54W

c.160C>T

1 paper

NM_001385109.1

p.V57M

c.169G>A

1 paper

NM_001385109.1

p.Q61K

c.181C>A

1 paper

NM_001385109.1

p.Q62insFs

c.184_185ins7

1 paper

NM_001385109.1

p.A71D

c.212C>A

1 paper

NM_001385109.1

p.A72V

c.215C>T