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.L352L

c.1054C>T

Surrounding Variants

1 paper

NM_033238.3

p.L356R

c.1067T>G

2 papers

NM_033238.3

p.D347A

c.1040A>C

1 paper

NM_033238.3

p.D347G

c.1040A>G

1 paper

NM_033238.3

p.L346P

c.1037T>C

2 papers

NM_033238.3

p.R360H

c.1079G>A

1 paper

NM_033238.3

p.R360_Q361ins1

c.1080_1081insCAG

1 paper

NM_033238.3

p.R360R

c.1080C>T

1 paper

NM_033238.3

p.Q361ins1

c.1081_1082insAGA

1 paper

NM_033238.3

p.E362_E363ins1

c.1086_1087insAAG

1 paper

NM_033238.3

p.S341delFs

c.1023delG

1 paper

NM_033238.3

p.S341P

c.1021T>C

2 papers

NM_033238.3

p.P364S

c.1090C>T