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.S341delFs

c.1023delG

Surrounding Variants

1 paper

NM_033238.3

p.S341P

c.1021T>C

1 paper

NM_033238.3

p.M336K

c.1007T>A

1 paper

NM_033238.3

p.L346P

c.1037T>C

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.R335fs

c.1003_1004fs

1 paper

NM_033238.3

p.R335Fs

c.1003delinsGAFs

1 paper

NM_033238.3

p.Q334*

c.1000C>T

1 paper

NM_033238.3

p.L332Q

c.995T>A

1 paper

NM_033238.3

p.L332P

c.995T>C

1 paper

NM_033238.3

p.L352L

c.1054C>T

1 paper

NM_033238.3

p.L356R

c.1067T>G