Varaico: Literature-Extracted Genetic Variants

Gene:JADE1

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
1–12 of 45 variants
5 papers
NM_199320.4
p.R641H
c.1922G>A
3 papers
NM_199320.4
p.E104D
c.312G>C
3 papers
NM_199320.4
p.E104D
c.312G>T
2 papers
NM_199320.4
p.S392fs
c.1174_1175fs
1 paper
NM_199320.4
p.S8R
c.22A>C
1 paper
NM_199320.4
p.S8R
c.24C>A
1 paper
NM_199320.4
p.S8R
c.24C>G
1 paper
NM_199320.4
p.D14G
c.41A>G
1 paper
NM_199320.4
p.S61S
c.183C>G
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
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