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.R270H

c.809G>A

Surrounding Variants

1 paper

NM_033238.3

p.R270insFs

c.810dupC

1 paper

NM_033238.3

p.R270C

c.808C>T

1 paper

NM_033238.3

p.L268P

c.803T>C

1 paper

NM_033238.3

p.A273delFs

c.817_818delGC

1 paper

NM_033238.3

p.Q267_L268delFs

c.801_802delGC

1 paper

NM_033238.3

p.G266D

c.797G>A

1 paper

NM_033238.3

p.V265G

c.794T>G

1 paper

NM_033238.3

p.A264A

c.792C>T

2 papers

NM_033238.3

p.E276K

c.826G>A

1 paper

NM_033238.3

p.Q260_M261insFs

c.780_781insA

1 paper

NM_033238.3

p.E281*

c.841G>T

1 paper

NM_033238.3

p.Q260delFs

c.778delC