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.L655F

c.1965G>C

Surrounding Variants

1 paper

NM_004426.3

p.L655F

c.1965G>T

1 paper

NM_004426.3

p.P660S

c.1978C>T

1 paper

NM_004426.3

p.E648fs

c.1942_1943fs

1 paper

NM_004426.3

p.P665S

c.1993C>T

1 paper

NM_004426.3

p.P665L

c.1994C>T

1 paper

NM_004426.3

p.R641C

c.1921C>T

2 papers

NM_004426.3

p.T693A

c.2077A>G

1 paper

NM_004426.3

p.A704T

c.2110G>A

1 paper

NM_004426.3

p.S716Y

c.2147C>A

1 paper

NM_004426.3

p.I728delFs

c.2184delC

2 papers

NM_004426.3

p.H629N

c.1885C>A

1 paper

NM_004426.3

p.V628A

c.1883T>C