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.N273S

c.818A>G

Surrounding Variants

1 paper

NM_004426.3

p.S255P

c.763T>C

1 paper

NM_004426.3

p.G292insFs

c.874_875insA

1 paper

NM_004426.3

p.P295L

c.884C>T

1 paper

NM_004426.3

p.A249V

c.746C>T

1 paper

NM_004426.3

p.A247S

c.739G>T

2 papers

NM_004426.3

p.R306R

c.918A>G

1 paper

NM_004426.3

p.P236R

c.707C>G

2 papers

NM_004426.3

p.P231P

c.693T>A

1 paper

NM_004426.3

p.Q214insFs

c.642dupG

1 paper

NM_004426.3

p.Q214*

c.640C>T

1 paper

NM_004426.3

p.N348K

c.1044T>A

1 paper

NM_004426.3

p.N348K

c.1044T>G