Varaico: Literature-Extracted Genetic Variants

Gene:PHF14
Variant:p.A49P

PHF14

59 papers

Pfam Domains

PHD_2aa 48–76UCSCPHD-finger
zf-HC5HC2H_2aa 98–213UCSCPHD-zinc-finger like domain
PHD_2aa 333–361UCSCPHD-finger
zf-HC5HC2H_2aa 383–498UCSCPHD-zinc-finger like domain
PHDaa 443–491UCSCPHD-finger
PHDaa 728–776UCSCPHD-finger

Gene Aliases

HGNC Name

PHD finger protein 14

HGNC Alias Symbol

KIAA0783

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001007157.2
p.A49P
c.145G>C
Surrounding Variants
1 paper
NM_001007157.2
p.E68_E69del2
c.202_206del6
1 paper
NM_001007157.2
p.L90V
c.268C>G
1 paper
NM_001007157.2
p.E100*
c.298G>T
3 papers
NM_001007157.2
p.K115R
c.344A>G
1 paper
NM_001007157.2
p.S141F
c.422C>T
1 paper
NM_001007157.2
p.A148V
c.443C>T
1 paper
NM_001007157.2
p.T152T
c.456A>C
1 paper
NM_001007157.2
p.A159T
c.475G>A
1 paper
NM_001007157.2
p.S165Y
c.494C>A
1 paper
NM_001007157.2
p.P180delFs
c.539delC
2 papers
NM_001007157.2
p.P180fs
c.538_539fs
1 paper
NM_001007157.2
p.K182delFs
c.546delA
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