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.V639I

c.1915G>A

Surrounding Variants

1 paper

NM_033238.3

p.V638M

c.1912G>A

1 paper

NM_033238.3

p.R637G

c.1909C>G

1 paper

NM_033238.3

p.P642A

c.1924C>G

1 paper

NM_033238.3

p.E643_A644del1

c.1928_1930delAAG

1 paper

NM_033238.3

p.A644T

c.1930G>A

1 paper

NM_033238.3

p.A644insFs

c.1931dupC

1 paper

NM_033238.3

p.A644fs

c.1930_1931fs

1 paper

NM_033238.3

p.S634_Q641delFs

c.1900_1922del23

1 paper

NM_033238.3

p.F645insFs

c.1934dupT

1 paper

NM_033238.3

p.E633K

c.1897G>A

1 paper

NM_033238.3

p.S634insFs

c.1900dupA

11 papers

NM_033238.3

p.F645L

c.1933T>C