Varaico: Literature-Extracted Genetic Variants

Gene:JADE1
Variant:p.R458K

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.R458K
c.1373G>A
Surrounding Variants
1 paper
NM_199320.4
p.D483E
c.1449T>A
1 paper
NM_199320.4
p.D483E
c.1449T>G
1 paper
NM_199320.4
p.E408K
c.1222G>A
1 paper
NM_199320.4
p.L403R
c.1208T>G
1 paper
NM_199320.4
p.R394R
c.1180C>A
1 paper
NM_199320.4
p.R394W
c.1180C>T
2 papers
NM_199320.4
p.S392fs
c.1174_1175fs
1 paper
NM_199320.4
p.F361L
c.1083C>A
1 paper
NM_199320.4
p.F361L
c.1083C>G
1 paper
NM_199320.4
p.F361L
c.1081T>C
1 paper
NM_199320.4
p.D344E
c.1032C>A
1 paper
NM_199320.4
p.D344E
c.1032C>G
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