Varaico: Literature-Extracted Genetic Variants

PCGF3

34 papers

RefSeq Summary

The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determ...

Pfam Domains

zf-C3HC4_2aa 16–55UCSCZinc finger, C3HC4 type (RING finger)

RAWULaa 172–236UCSCRAWUL domain RING finger- and WD40-associated ubiquitin-like

Gene Aliases

HGNC Name

polycomb group ring finger 3

HGNC Alias Symbols

FLJ36550; DONG1; RNF3A; MGC40413

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006315.7

p.K217Fs

c.650delinsGCTGGGCCFs

Surrounding Variants

1 paper

NM_006315.7

p.L210_K217Fs

c.630_650delinsGCTGGGCFs

1 paper

NM_006315.7

p.R225_F226insFs

c.675_676insA

1 paper

NM_006315.7

p.E208E

c.624G>A

1 paper

NM_006315.7

p.F226insFs

c.676_677insA

2 papers

NM_006315.7

p.L204S

c.611T>C

1 paper

NM_006315.7

p.K228insFs

c.683_684insA

1 paper

NM_006315.7

p.K228_A229insFs

c.684_685insA

1 paper

NM_006315.7

p.A229S

c.685G>T

2 papers

NM_006315.7

p.L233L

c.699G>C

1 paper

NM_006315.7

p.E200K

c.598G>A

1 paper

NM_006315.7

p.N194N

c.582C>T

1 paper

NM_006315.7

p.K191fs

c.571_572fs