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.R510S

c.1530G>C

Surrounding Variants

1 paper

NM_033238.3

p.R510S

c.1530G>T

2 papers

NM_033238.3

p.K515R

c.1544A>G

1 paper

NM_033238.3

p.S518A

c.1552T>G

1 paper

NM_033238.3

p.P519A

c.1555C>G

2 papers

NM_033238.3

p.A502T

c.1504G>A

1 paper

NM_033238.3

p.P520S

c.1558C>T

1 paper

NM_033238.3

p.A499V

c.1496C>T

1 paper

NM_033238.3

p.K497R

c.1490A>G

1 paper

NM_033238.3

p.G496V

c.1487G>T

2 papers

NM_033238.3

p.P525L

c.1574C>T

1 paper

NM_033238.3

p.S493T

c.1477T>A

1 paper

NM_033249.3

p.S482fs

c.1444_1445fs