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.K244R

c.731A>G

Surrounding Variants

1 paper

NM_032673.3

p.G243S

c.727G>A

1 paper

NM_032673.3

p.I236L

c.706A>T

1 paper

NM_032673.3

p.I236L

c.706A>C

1 paper

NM_032673.3

p.Y252D

c.754T>G

1 paper

NM_032673.3

p.V206D

c.617T>A

1 paper

NM_032673.3

p.V206L

c.616G>C

1 paper

NM_032673.3

p.H202Y

c.604C>T

1 paper

NM_032673.3

p.S195C

c.584C>G

2 papers

NM_032673.3

p.R175W

c.523C>T

1 paper

NM_032673.3

p.Y163fs

c.487_488fs

1 paper

NM_032673.3

p.V135I

c.403G>A

1 paper

NM_032673.3

p.S129P

c.385T>C