Varaico: Literature-Extracted Genetic Variants

Gene:JMJD6
Variant:p.I284L

JMJD6

59 papers

RefSeq Summary

This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as ...

Pfam Domains

JmjCaa 174–288UCSCJmjC domain, hydroxylase

Gene Aliases

HGNC Name

jumonji domain containing 6, arginine demethylase and lysine hydroxylase

HGNC Previous Symbol

PTDSR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015167.3
p.I284L
c.850A>C
Surrounding Variants
1 paper
NM_015167.3
p.I284T
c.851T>C
3 papers
NM_015167.3
p.T285A
c.853A>G
1 paper
NM_015167.3
p.D279N
c.835G>A
1 paper
NM_015167.3
p.S290I
c.869G>T
1 paper
NM_015167.3
p.N293S
c.878A>G
1 paper
NM_015167.3
p.V274A
c.821T>C
1 paper
NM_015167.3
p.F294F
c.882C>T
1 paper
NM_015167.3
p.G269E
c.806G>A
1 paper
NM_015167.3
p.K300K
c.900G>A
1 paper
NM_015167.3
p.K307Fs
c.919delinsTGAFs
1 paper
NM_015167.3
p.R314Splc
c.941+75G>T
1 paper
NM_015167.3
p.R314Splc
c.941+297G>T
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