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.V532fs

c.1594_1595fs

Surrounding Variants

2 papers

NM_033238.3

p.G534_F538del5

c.1600_1613del15

1 paper

NM_033238.3

p.P531delFs

c.1593delC

1 paper

NM_033249.3

p.S482fs

c.1444_1445fs

1 paper

NM_033238.3

p.S535G

c.1603A>G

1 paper

NM_033238.3

p.V537_F538insFs

c.1611_1612insA

2 papers

NM_033238.3

p.P525L

c.1574C>T

1 paper

NM_033238.3

p.P520S

c.1558C>T

1 paper

NM_033238.3

p.P519A

c.1555C>G

1 paper

NM_033238.3

p.S518A

c.1552T>G

1 paper

NM_033238.3

p.A546V

c.1637C>T

2 papers

NM_033238.3

p.K515R

c.1544A>G

1 paper

NM_033238.3

p.A549A

c.1647C>T