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.R120R

c.360G>A

Surrounding Variants

1 paper

NM_033238.3

p.R120G

c.358C>G

2 papers

NM_033238.3

p.R120W

c.358C>T

1 paper

NM_033238.3

p.Y119Y

c.357C>T

1 paper

NM_033238.3

p.S117S

c.351G>A

1 paper

NM_033238.3

p.S117_V118insFs

c.351_352ins4

4 papers

NM_033238.3

p.S117A

c.349T>G

1 paper

NM_033238.3

p.A127P

c.379G>C

1 paper

NM_033238.3

p.C129insFs

c.385_386dupTG

1 paper

NM_033238.3

p.V128E

c.383T>A

1 paper

NM_033238.3

p.L112R

c.335T>G

1 paper

NM_033238.3

p.T130fs

c.388_389fs

1 paper

NM_033238.3

p.E110Q

c.328G>C