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

1 paper

NM_033238.3

p.R295insFs

c.883dupC

Surrounding Variants

1 paper

NM_033238.3

p.R295P

c.884G>C

1 paper

NM_033238.3

p.Q293R

c.878A>G

1 paper

NM_033238.3

p.A292V

c.875C>T

1 paper

NM_033238.3

p.L297L

c.889C>T

2 papers

NM_033238.3

p.L298P

c.893T>C

1 paper

NM_033238.3

p.E299A

c.896A>C

1 paper

NM_033238.3

p.A303T

c.907G>A

1 paper

NM_033238.3

p.R304G

c.910C>G

1 paper

NM_033238.3

p.R284P

c.851G>C

2 papers

NM_033238.3

p.Y305C

c.914A>G

1 paper

NM_033238.3

p.Y305_Q306delFs

c.915_916delCC

1 paper

NM_033238.3

p.V283V

c.849G>A