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.Q237H

c.711G>C

Surrounding Variants

1 paper

NM_033238.3

p.Q237H

c.711G>T

1 paper

NM_033238.3

p.Q237E

c.709C>G

1 paper

NM_033238.3

p.E239K

c.715G>A

1 paper

NM_033238.3

p.L240R

c.719T>G

1 paper

NM_033238.3

p.D241G

c.722A>G

1 paper

NM_033238.3

p.I233I

c.699C>T

1 paper

NM_033238.3

p.A242S

c.724G>T

1 paper

NM_033238.3

p.T244K

c.731C>A

1 paper

NM_033238.3

p.T244_Q245insFs

c.732_733insG

2 papers

NM_033238.3

p.T244M

c.731C>T

1 paper

NM_033238.3

p.Q245*

c.733C>T

1 paper

NM_033238.3

p.A246S

c.736G>T