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

1–12 of 456 variants

15 papers

NM_033238.3

p.A216V

c.647C>T

11 papers

NM_033238.3

p.R175H

c.524G>A

11 papers

NM_033238.3

p.F645L

c.1933T>C

11 papers

NM_033238.3

p.F645L

c.1935C>A

11 papers

NM_033238.3

p.F645L

c.1935C>G

7 papers

NM_033238.3

p.K65R

c.194A>G

7 papers

NM_033238.3

p.K160R

c.479A>G

7 papers

NM_033238.3

p.S214L

c.641C>T

6 papers

NM_033238.3

p.K490R

c.1469A>G

5 papers

NM_033238.3

p.L217F

c.649C>T

5 papers

NM_033238.3

p.L218P

c.653T>C

4 papers

NM_033238.3

p.S117A

c.349T>G