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

2 papers

NM_033238.3

p.R861W

c.2581C>T

Surrounding Variants

2 papers

NM_033238.3

p.R861G

c.2581C>G

1 paper

NM_033238.3

p.R861Q

c.2582G>A

4 papers

NM_033238.3

p.A858V

c.2573C>T

1 paper

NM_033238.3

p.G856G

c.2568T>G

1 paper

NM_033238.3

p.G856S

c.2566G>A

1 paper

NM_033238.3

p.L869R

c.2606T>G

1 paper

NM_033238.3

p.E851K

c.2551G>A

1 paper

NM_033238.3

p.G871C

c.2611G>T

1 paper

NM_033238.3

p.R872C

c.2614C>T

1 paper

NM_033238.3

p.G873D

c.2618G>A

1 paper

NM_033238.3

p.A878G

c.2633C>G

2 papers

NM_033238.3

p.S882N

c.2645G>A