Varaico: Literature-Extracted Genetic Variants

Gene:JADE2
Variant:p.D460N

JADE2

51 papers

Pfam Domains

EPL1aa 2–177UCSCEnhancer of polycomb-like
PHD_2aa 213–247UCSCPHD-finger
zf-HC5HC2H_2aa 252–364UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

jade family PHD finger 2

HGNC Previous Symbol

PHF15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001388185.1
p.D460N
c.1378G>A
Surrounding Variants
1 paper
NM_001388185.1
p.V461I
c.1381G>A
1 paper
NM_001388185.1
p.T445I
c.1334C>T
1 paper
NM_001388185.1
p.P442L
c.1325C>T
1 paper
NM_001388185.1
p.E412*
c.1234G>T
1 paper
NM_001388185.1
p.R393L
c.1178G>T
1 paper
NM_001388185.1
p.E376V
c.1127A>T
1 paper
NM_001388185.1
p.R370C
c.1108C>T
3 papers
NM_001388185.1
p.G368V
c.1103G>T
1 paper
NM_001388185.1
p.F339I
c.1015T>A
1 paper
NM_001388185.1
p.H334L
c.1001A>T
1 paper
NM_001388185.1
p.C324R
c.970T>C
1 paper
NM_001388185.1
p.C289R
c.865T>C
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