Varaico: Literature-Extracted Genetic Variants

Gene:PML
Variant:p.C140Y

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.C140Y
c.419G>A
Surrounding Variants
1 paper
NM_033238.3
p.F141ins3
c.422_423ins9
1 paper
NM_033238.3
p.F138L
c.414C>A
1 paper
NM_033238.3
p.E142G
c.425A>G
1 paper
NM_033238.3
p.A136A
c.408C>T
1 paper
NM_033238.3
p.E144*
c.430G>T
2 papers
NM_033238.3
p.S135L
c.404C>T
1 paper
NM_033238.3
p.K133R
c.398A>G
1 paper
NM_033238.3
p.C148S
c.442T>A
1 paper
NM_033238.3
p.C132Y
c.395G>A
1 paper
NM_033238.3
p.C148S
c.443G>C
1 paper
NM_033238.3
p.K150E
c.448A>G
1 paper
NM_033238.3
p.K150R
c.449A>G
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