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

4 papers

NM_033238.3

p.A216T

c.646G>A

Surrounding Variants

15 papers

NM_033238.3

p.A216V

c.647C>T

5 papers

NM_033238.3

p.L217F

c.649C>T

7 papers

NM_033238.3

p.S214L

c.641C>T

1 paper

NM_033238.3

p.C213*

c.639C>A

5 papers

NM_033238.3

p.L218P

c.653T>C

1 paper

NM_033238.3

p.C213F

c.638G>T

2 papers

NM_033238.3

p.D219H

c.655G>C

2 papers

NM_033238.3

p.C213R

c.637T>C

1 paper

NM_033238.3

p.D219E

c.657C>A

1 paper

NM_033238.3

p.D219E

c.657C>G

3 papers

NM_033238.3

p.S220G

c.658A>G

1 paper

NM_033238.3

p.S220C

c.658A>T