Varaico: Literature-Extracted Genetic Variants

Gene:PHF20L1
Variant:p.D552delFs

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.D552delFs
c.1655_1656delAT
Surrounding Variants
1 paper
NM_016018.5
p.D552fs
c.1654_1655fs
1 paper
NM_016018.5
p.K549N
c.1647A>C
1 paper
NM_016018.5
p.K549N
c.1647A>T
1 paper
NM_016018.5
p.K571fs
c.1711_1712fs
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.E532insFs
c.1594_1595insA
1 paper
NM_016018.5
p.E532fs
c.1594_1595fs
1 paper
NM_016018.5
p.D582fs
c.1744_1745fs
1 paper
NM_016018.5
p.L594F
c.1782G>C
1 paper
NM_016018.5
p.L594F
c.1782G>T
2 papers
NM_016018.5
p.R603Q
c.1808G>A
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