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.R717C

c.2149C>T

Surrounding Variants

1 paper

NM_033238.3

p.R717H

c.2150G>A

1 paper

NM_033238.3

p.E716G

c.2147A>G

2 papers

NM_033238.3

p.V718M

c.2152G>A

3 papers

NM_033238.3

p.R715Q

c.2144G>A

1 paper

NM_033238.3

p.I714fs

c.2140_2141fs

1 paper

NM_033238.3

p.L713R

c.2138T>G

1 paper

NM_033238.3

p.P712fs

c.2134_2135fs

1 paper

NM_033238.3

p.L711_P712insFs

c.2133_2134ins5

4 papers

NM_033238.3

p.K725R

c.2174A>G

1 paper

NM_033238.3

p.K725N

c.2175A>T

1 paper

NM_033238.3

p.A703V

c.2108C>T

1 paper

NM_033238.3

p.T732_Y733insG

c.2194_2198ins3