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.L178R

c.533T>G

Surrounding Variants

1 paper

NM_033238.3

p.L178_G180delFs

c.534_538del5

1 paper

NM_033238.3

p.G180insFs

c.538_539ins7

11 papers

NM_033238.3

p.R175H

c.524G>A

2 papers

NM_033238.3

p.R175C

c.523C>T

1 paper

NM_033238.3

p.R182H

c.545G>A

1 paper

NM_033238.3

p.Q172K

c.514C>A

1 paper

NM_033238.3

p.R170H

c.509G>A

1 paper

NM_033238.3

p.I187F

c.559A>T

1 paper

NM_033238.3

p.F188L

c.562T>C

1 paper

NM_033238.3

p.E168delFs

c.504delG

1 paper

NM_033238.3

p.F188Y

c.563T>A

1 paper

NM_033238.3

p.F188L

c.564C>A