Varaico: Literature-Extracted Genetic Variants

Gene:PHF20L1
Variant:p.L594F

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.L594F
c.1782G>C
Surrounding Variants
1 paper
NM_016018.5
p.L594F
c.1782G>T
2 papers
NM_016018.5
p.R603Q
c.1808G>A
1 paper
NM_016018.5
p.D582fs
c.1744_1745fs
1 paper
NM_016018.5
p.V631I
c.1891G>A
1 paper
NM_016018.5
p.D676N
c.2026G>A
1 paper
NM_016018.5
p.Y724delFs
c.2172delT
1 paper
NM_016018.5
p.G731Splc
c.2191+33A>G
1 paper
NM_016018.5
p.K571K
c.1713G>A
1 paper
NM_016018.5
p.K572insFs
c.1714dupA
1 paper
NM_016018.5
p.K571fs
c.1711_1712fs
1 paper
NM_016018.5
p.D552fs
c.1654_1655fs
1 paper
NM_016018.5
p.D552delFs
c.1655_1656delAT
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."