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.R796H

c.2387G>A

Surrounding Variants

1 paper

NM_033238.3

p.R796C

c.2386C>T

1 paper

NM_033238.3

p.L797F

c.2389C>T

1 paper

NM_033238.3

p.A795P

c.2383G>C

1 paper

NM_033238.3

p.E794G

c.2381A>G

1 paper

NM_033238.3

p.L798P

c.2393T>C

1 paper

NM_033238.3

p.H801_N802del2

c.2401_2405del6

2 papers

NM_033238.3

p.R792G

c.2374C>G

1 paper

NM_033238.3

p.N802T

c.2405A>C

1 paper

NM_033238.3

p.V803G

c.2408T>G

1 paper

NM_033238.3

p.S780S

c.2340C>T

1 paper

NM_033238.3

p.L781insFs

c.2341_2342insC

1 paper

NM_033238.3

p.S780_L781insA

c.2338_2342ins3