Varaico: Literature-Extracted Genetic Variants

Gene:JADE2
Variant:p.C202_D203delFs

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.C202_D203delFs
c.606_607delCG
Surrounding Variants
1 paper
NM_001388185.1
p.D203G
c.608A>G
1 paper
NM_001388185.1
p.E195K
c.583G>A
1 paper
NM_001388185.1
p.D212A
c.635A>C
1 paper
NM_001388185.1
p.N151S
c.452A>G
1 paper
NM_001388185.1
p.R136H
c.407G>A
1 paper
NM_001388185.1
p.L106F
c.316C>T
1 paper
NM_001388185.1
p.Y231F
c.692A>T
1 paper
NM_001388185.1
p.P237H
c.710C>A
1 paper
NM_001388185.1
p.R244Q
c.731G>A
1 paper
NM_001388185.1
p.G288V
c.863G>T
1 paper
NM_001388185.1
p.C289R
c.865T>C
1 paper
NM_001388185.1
p.C324R
c.970T>C
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