Varaico: Literature-Extracted Genetic Variants

Gene:PHF20L1
Variant:p.C100fs

PHF20L1

54 papers

Pfam Domains

Tudor_2aa 90–123UCSCJumonji domain-containing protein 2A Tudor domain
PHD20L1_u1aa 292–388UCSCPHD finger protein 20-like protein 1
PHD_5aa 647–702UCSCPhD finger domain

Gene Aliases

HGNC Name

PHD finger protein 20 like 1

HGNC Alias Symbols

CGI-72; FLJ13649; MGC64923; FLJ21615; TDRD20B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016018.5
p.C100fs
c.298_299fs
Surrounding Variants
1 paper
NM_016018.5
p.R101C
c.301C>T
1 paper
NM_016018.5
p.E92K
c.274G>A
1 paper
NM_016018.5
p.D55N
c.163G>A
1 paper
NM_016018.5
p.R49G
c.145C>G
1 paper
NM_016018.5
p.G41fs
c.121_122fs
1 paper
NM_016018.5
p.G41delFs
c.122delG
2 papers
NM_016018.5
p.Y121C
c.362A>G
1 paper
NM_016018.5
p.R126C
c.376C>T
1 paper
NM_016018.5
p.P137S
c.409C>T
1 paper
NM_016018.5
p.E138*
c.412G>T
1 paper
NM_016018.5
p.Q143_V144Splc
c.430-2A>G
1 paper
NM_016018.5
p.I222V
c.664A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."