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

1–12 of 75 variants

9 papers

NM_004426.3

p.L992F

c.2974C>T

4 papers

NM_004426.3

p.Q389*

c.1165C>T

2 papers

NM_004426.3

p.R34*

c.100C>T

2 papers

NM_004426.3

p.P231P

c.693T>A

2 papers

NM_004426.3

p.R306R

c.918A>G

2 papers

NM_004426.3

p.Q429del1

c.1285_1286delCAG

2 papers

NM_004426.3

p.H629N

c.1885C>A

2 papers

NM_004426.3

p.T693A

c.2077A>G

1 paper

NM_004426.3

p.M1I

c.3G>A

1 paper

NM_004426.3

p.E2K

c.4G>A

1 paper

NM_004426.3

p.E6A

c.17A>C

1 paper

NM_004426.3

p.S17insFs

c.50dupG