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

2 papers

NM_033238.3

p.R195H

c.584G>A

Surrounding Variants

1 paper

NM_033238.3

p.T198T

c.594G>A

1 paper

NM_033238.3

p.L199L

c.595C>T

1 paper

NM_033238.3

p.N191D

c.571A>G

1 paper

NM_033238.3

p.T200insFs

c.599dupC

1 paper

NM_033238.3

p.T200fs

c.598_599fs

1 paper

NM_033238.3

p.S201Splc

c.602+1G>A

1 paper

NM_033238.3

p.F188L

c.564C>A

1 paper

NM_033238.3

p.F188L

c.564C>G

1 paper

NM_033238.3

p.F188Y

c.563T>A

1 paper

NM_033238.3

p.F188L

c.562T>C

1 paper

NM_033238.3

p.I187F

c.559A>T

1 paper

NM_033238.3

p.R182H

c.545G>A