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.E110*

c.328G>T

Surrounding Variants

1 paper

NM_033238.3

p.E110Q

c.328G>C

1 paper

NM_033238.3

p.F109I

c.325T>A

1 paper

NM_033238.3

p.L112R

c.335T>G

1 paper

NM_033238.3

p.V107insFs

c.319_320insT

1 paper

NM_033238.3

p.N106I

c.317A>T

4 papers

NM_033238.3

p.S117A

c.349T>G

1 paper

NM_033238.3

p.A103_F108del6

c.307_323del18

1 paper

NM_033238.3

p.S117S

c.351G>A

1 paper

NM_033238.3

p.S117_V118insFs

c.351_352ins4

1 paper

NM_033238.3

p.T101T

c.303A>C

1 paper

NM_033238.3

p.T101I

c.302C>T

1 paper

NM_033238.3

p.Y119Y

c.357C>T