Varaico: Literature-Extracted Genetic Variants

PCGF1

34 papers

RefSeq Summary

PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 200...

Pfam Domains

zf-C3HC4_2aa 46–85UCSCZinc finger, C3HC4 type (RING finger)

RAWULaa 190–253UCSCRAWUL domain RING finger- and WD40-associated ubiquitin-like

Gene Aliases

HGNC Name

polycomb group ring finger 1

HGNC Alias Symbols

NSPC1; RNF68; MGC10882

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032673.3

p.Y23N

c.67T>A

Surrounding Variants

1 paper

NM_032673.3

p.Y23_K24delFs

c.68_71del4

1 paper

NM_032673.3

p.S3insFs

c.7dupT

1 paper

NM_032673.3

p.K39E

c.115A>G

1 paper

NM_032673.3

p.I45T

c.134T>C

1 paper

NM_032673.3

p.I60fs

c.178_179fs

1 paper

NM_032673.3

p.E62K

c.184G>A

1 paper

NM_032673.3

p.C68F

c.203G>T

1 paper

NM_032673.3

p.C68_C71del4

c.202_212del12

1 paper

NM_032673.3

p.H90R

c.269A>G

1 paper

NM_032673.3

p.R102R

c.306G>A

1 paper

NM_032673.3

p.V108_Y109insF

c.322_326ins3

1 paper

NM_032673.3

p.K121E

c.361A>G