Varaico: Literature-Extracted Genetic Variants

Gene:JADE2

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
1–12 of 43 variants
3 papers
NM_001388185.1
p.G368V
c.1103G>T
1 paper
NM_001388185.1
p.R6*
c.16C>T
1 paper
NM_001388185.1
p.A22V
c.65C>T
1 paper
NM_001388185.1
p.L33R
c.98T>G
1 paper
NM_001388185.1
p.P64Q
c.191C>A
1 paper
NM_001388185.1
p.P80Q
c.239C>A
1 paper
NM_001388185.1
p.L106F
c.316C>T
1 paper
NM_001388185.1
p.R136H
c.407G>A
1 paper
NM_001388185.1
p.N151S
c.452A>G
1 paper
NM_001388185.1
p.E195K
c.583G>A
1 paper
NM_001388185.1
p.C202_D203delFs
c.606_607delCG
1 paper
NM_001388185.1
p.D203G
c.608A>G
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