Varaico: Literature-Extracted Genetic Variants

Gene:PHF20
Variant:p.L949F

PHF20

83 papers

Pfam Domains

Tudor_3aa 89–136UCSCDNA repair protein Crb2 Tudor domain
PHF20_AT-hookaa 176–280UCSCPHD finger protein 20, AT-hook
PHD_5aa 643–699UCSCPhD finger domain

Gene Aliases

HGNC Name

PHD finger protein 20

HGNC Previous Symbol

C20orf104

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016436.5
p.L949F
c.2845C>T
Surrounding Variants
1 paper
NM_016436.5
p.W938*
c.2814G>A
1 paper
NM_016436.5
p.Q937*
c.2809C>T
1 paper
NM_016436.5
p.V966M
c.2896G>A
1 paper
NM_016436.5
p.K912fs
c.2734_2735fs
1 paper
NM_016436.5
p.K912delFs
c.2735delA
1 paper
NM_016436.5
p.V909I
c.2725G>A
1 paper
NM_016436.5
p.S892C
c.2674A>T
1 paper
NM_016436.5
p.L883L
c.2647C>T
1 paper
NM_016436.5
p.S880F
c.2639C>T
1 paper
NM_016436.5
p.D866N
c.2596G>A
1 paper
NM_016436.5
p.D865N
c.2593G>A
1 paper
NM_016436.5
p.E858Q
c.2572G>C
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