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

1 paper

NM_004426.3

p.M1I

c.3G>A

Surrounding Variants

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

1 paper

NM_004426.3

p.A27G

c.80C>G

1 paper

NM_004426.3

p.L31L

c.93T>A

2 papers

NM_004426.3

p.R34*

c.100C>T

1 paper

NM_004426.3

p.H54N

c.160C>A

1 paper

NM_004426.3

p.A72V

c.215C>T

1 paper

NM_004426.3

p.Q74*

c.220C>T

1 paper

NM_004426.3

p.A84P

c.250G>C

1 paper

NM_004426.3

p.A101G

c.302C>G

1 paper

NM_004426.3

p.A106T

c.316G>A