Varaico: Literature-Extracted Genetic Variants

PML

759 papers

RefSeq Summary

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil reg...

Pfam Domains

zf-C3HC4aa 57–91UCSCZinc finger, C3HC4 type (RING finger)

ANCHR-like_BBOXaa 128–163UCSCANCHR-like B-box zinc-binding domain

PML_CCaa 240–570UCSCPML-like, coiled-coil

PML_Caa 777–853UCSCPML, C-terminal domain

Gene Aliases

HGNC Name

PML nuclear body scaffold

HGNC Alias Symbols

TRIM19; RNF71

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_033238.3

p.L218P

c.653T>C

Surrounding Variants

2 papers

NM_033238.3

p.D219H

c.655G>C

1 paper

NM_033238.3

p.D219E

c.657C>A

1 paper

NM_033238.3

p.D219E

c.657C>G

5 papers

NM_033238.3

p.L217F

c.649C>T

3 papers

NM_033238.3

p.S220G

c.658A>G

1 paper

NM_033238.3

p.S220C

c.658A>T

15 papers

NM_033238.3

p.A216V

c.647C>T

4 papers

NM_033238.3

p.A216T

c.646G>A

1 paper

NM_033238.3

p.S221insFs

c.662_663insG

1 paper

NM_033238.3

p.S221G

c.661A>G

1 paper

NM_033238.3

p.H222N

c.664C>A

2 papers

NM_033238.3

p.H222Y

c.664C>T