Varaico: Literature-Extracted Genetic Variants

Gene:JADE1
Variant:p.S61S

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
1 paper
NM_199320.4
p.S61S
c.183C>G
Surrounding Variants
3 papers
NM_199320.4
p.E104D
c.312G>C
3 papers
NM_199320.4
p.E104D
c.312G>T
1 paper
NM_199320.4
p.R132Q
c.395G>A
1 paper
NM_199320.4
p.D184N
c.550G>A
1 paper
NM_199320.4
p.E215K
c.643G>A
1 paper
NM_199320.4
p.Q255R
c.764A>G
1 paper
NM_199320.4
p.P287S
c.859C>T
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