Varaico: Literature-Extracted Genetic Variants

Gene:JADE3
Variant:p.M217T

JADE3

32 papers

RefSeq Summary

This gene encodes a member of a family of large proteins containing PHD (plant homeo domain)-type zinc fingers. The encoded protein may be associated in a nuclear complex that functions in histone H4 ...

Pfam Domains

EPL1aa 2–178UCSCEnhancer of polycomb-like
PHDaa 203–247UCSCPHD-finger
zf-HC5HC2H_2aa 253–365UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

jade family PHD finger 3

HGNC Previous Symbol

PHF16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014735.5
p.M217T
c.650T>C
Surrounding Variants
1 paper
NM_014735.5
p.G214_N215insFs
c.642_643insA
1 paper
NM_014735.5
p.G214fs
c.640_641fs
1 paper
NM_014735.5
p.D198N
c.592G>A
1 paper
NM_014735.5
p.M168delFs
c.504delG
1 paper
NM_014735.5
p.R137C
c.409C>T
1 paper
NM_014735.5
p.K261N
c.783A>C
1 paper
NM_014735.5
p.K261N
c.783A>T
1 paper
NM_014735.5
p.I283L
c.847A>C
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