Varaico: Literature-Extracted Genetic Variants

PHC1

79 papers

RefSeq Summary

This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the...

Pfam Domains

zf-FCS_1aa 798–827UCSCZinc finger, FCS-type

PHC2_SAM_assocaa 828–935UCSCUnstructured region on Polyhomeotic-like protein 1 and 2

SAM_1aa 938–1002UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

polyhomeotic homolog 1

HGNC Previous Symbol

EDR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_004426.3

p.Q389*

c.1165C>T

Surrounding Variants

1 paper

NM_004426.3

p.F407fs

c.1219_1220fs

1 paper

NM_004426.3

p.Q422K

c.1264C>A

1 paper

NM_004426.3

p.A424_Q425del2

c.1270_1274del6

2 papers

NM_004426.3

p.Q429del1

c.1285_1286delCAG

1 paper

NM_004426.3

p.Q427_Q428insA

c.1279_1283ins3

1 paper

NM_004426.3

p.T470N

c.1409C>A

1 paper

NM_004426.3

p.P493delFs

c.1477delC

1 paper

NM_004426.3

p.A512A

c.1536C>T

1 paper

NM_004426.3

p.K514_A517del0

c.1540_1551del12

1 paper

NM_004426.3

p.R533Q

c.1598G>A

1 paper

NM_004426.3

p.R556W

c.1666C>T

1 paper

NM_004426.3

p.Q566_A567insA

c.1696_1700ins3