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.F254L

c.762T>A

Surrounding Variants

1 paper

NM_033238.3

p.F254L

c.762T>G

1 paper

NM_033238.3

p.F254L

c.760T>C

1 paper

NM_033238.3

p.A256V

c.767C>T

1 paper

NM_033238.3

p.H258Y

c.772C>T

1 paper

NM_033238.3

p.A259G

c.776C>G

1 paper

NM_033238.3

p.A259V

c.776C>T

1 paper

NM_033238.3

p.Q260delFs

c.778delC

1 paper

NM_033238.3

p.Q260_M261insFs

c.780_781insA

1 paper

NM_033238.3

p.Q248*

c.742C>T

1 paper

NM_033238.3

p.L247R

c.740T>G

1 paper

NM_033238.3

p.A246S

c.736G>T

1 paper

NM_033238.3

p.Q245*

c.733C>T