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

2 papers

NM_033238.3

p.A64T

c.190G>A

Surrounding Variants

7 papers

NM_033238.3

p.K65R

c.194A>G

1 paper

NM_033238.3

p.A62V

c.185C>T

1 paper

NM_033238.3

p.Q61L

c.182A>T

3 papers

NM_033238.3

p.Q61K

c.181C>A

1 paper

NM_033238.3

p.Q61*

c.181C>T

1 paper

NM_033238.3

p.P67L

c.200C>T

1 paper

NM_033238.3

p.C60S

c.179G>C

1 paper

NM_033238.3

p.K68_P71del4

c.202_212del12

1 paper

NM_033238.3

p.C60S

c.178T>A

2 papers

NM_033238.3

p.K68R

c.203A>G

1 paper

NM_033238.3

p.Q58E

c.172C>G

1 paper

NM_033238.3

p.C57S

c.170G>C