Varaico: Literature-Extracted Genetic Variants

Gene:JADE1
Variant:p.R641H

JADE1

48 papers

Pfam Domains

EPL1aa 3–181UCSCEnhancer of polycomb-like
PHD_2aa 217–251UCSCPHD-finger
zf-HC5HC2H_2aa 256–368UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

jade family PHD finger 1

HGNC Previous Symbol

PHF17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_199320.4
p.R641H
c.1922G>A
Surrounding Variants
1 paper
NM_199320.4
p.I669L
c.2005A>C
1 paper
NM_199320.4
p.G671R
c.2011G>A
1 paper
NM_199320.4
p.G671R
c.2011G>C
1 paper
NM_199320.4
p.G671E
c.2012G>A
1 paper
NM_199320.4
p.D672N
c.2014G>A
1 paper
NM_199320.4
p.D675N
c.2023G>A
1 paper
NM_199320.4
p.S709T
c.2125T>A
1 paper
NM_199320.4
p.N731S
c.2192A>G
1 paper
NM_199320.4
p.G750*
c.2248G>T
1 paper
NM_199320.4
p.R759Q
c.2276G>A
1 paper
NM_199320.4
p.S774L
c.2321C>T
1 paper
NM_199320.4
p.D806N
c.2416G>A
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