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

9 papers

NM_004426.3

p.L992F

c.2974C>T

Surrounding Variants

1 paper

NM_004426.3

p.C995Y

c.2984G>A

1 paper

NM_004426.3

p.P930insFs

c.2789dupC

1 paper

NM_004426.3

p.D912Y

c.2734G>T

1 paper

NM_004426.3

p.G909E

c.2726G>A

1 paper

NM_004426.3

p.P901L

c.2702C>T

1 paper

NM_004426.3

p.D886H

c.2656G>C

1 paper

NM_004426.3

p.C874_H875insA

c.2620_2624ins3

1 paper

NM_004426.3

p.S863F

c.2588C>T

1 paper

NM_004426.3

p.Q846E

c.2536C>G

1 paper

NM_004426.3

p.R826Splc

c.2477+5T>G

1 paper

NM_004426.3

p.K794R

c.2381A>G

1 paper

NM_004426.3

p.P770L

c.2309C>T