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.G85D

c.254G>A

Surrounding Variants

1 paper

NM_033238.3

p.M86L

c.256A>C

1 paper

NM_033238.3

p.A83V

c.248C>T

1 paper

NM_033238.3

p.E82E

c.246G>A

1 paper

NM_033238.3

p.A83delFs

c.247delG

1 paper

NM_033238.3

p.C88Y

c.263G>A

1 paper

NM_033238.3

p.P89A

c.265C>G

1 paper

NM_033238.3

p.P89S

c.265C>T

1 paper

NM_033238.3

p.P89L

c.266C>T

1 paper

NM_033238.3

p.C80W

c.240C>G

1 paper

NM_033238.3

p.I90M

c.270C>G

1 paper

NM_033238.3

p.S78S

c.234A>T

3 papers

NM_033238.3

p.S78T

c.232T>A