Varaico: Literature-Extracted Genetic Variants

Gene:PHF14

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
1–12 of 75 variants
3 papers
NM_001007157.2
p.K115R
c.344A>G
2 papers
NM_001007157.2
p.P180fs
c.538_539fs
2 papers
NM_001007157.2
p.S225C
c.674C>G
2 papers
NM_001007157.2
p.A226A
c.678G>A
2 papers
NM_001007157.2
p.C322G
c.964T>G
2 papers
NM_001007157.2
p.P697L
c.2090C>T
2 papers
NM_001007157.2
p.E806K
c.2416G>A
1 paper
NM_001007157.2
p.K6N
c.18G>C
1 paper
NM_001007157.2
p.K6N
c.18G>T
1 paper
NM_001007157.2
p.Y23delFs
c.68_69delAT
1 paper
NM_001007157.2
p.S25R
c.73A>C
1 paper
NM_001007157.2
p.S25R
c.75T>A
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