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.L142delFs

c.424_425delCT

Surrounding Variants

1 paper

NM_004426.3

p.N143insFs

c.427_428insA

1 paper

NM_004426.3

p.P123P

c.369C>T

1 paper

NM_004426.3

p.A106T

c.316G>A

1 paper

NM_004426.3

p.A101G

c.302C>G

1 paper

NM_004426.3

p.A84P

c.250G>C

1 paper

NM_004426.3

p.N180K

c.540T>A

1 paper

NM_004426.3

p.Q188R

c.563A>G

1 paper

NM_004426.3

p.E189insFs

c.566_567insA

1 paper

NM_004426.3

p.Q74*

c.220C>T

1 paper

NM_004426.3

p.A72V

c.215C>T

1 paper

NM_004426.3

p.H54N

c.160C>A

2 papers

NM_004426.3

p.R34*

c.100C>T