Varaico: Literature-Extracted Genetic Variants

Gene:JMJD7
Variant:p.D241N

JMJD7

23 papers

RefSeq Summary

This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most...

Pfam Domains

Cupin_8aa 38–298UCSCCupin-like domain

Gene Aliases

HGNC Name

jumonji domain containing 7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001114632.2
p.D241N
c.721G>A
Surrounding Variants
2 papers
NM_001114632.2
p.R260C
c.778C>T
1 paper
NM_001114632.2
p.R260H
c.779G>A
1 paper
NM_001114632.2
p.R264Q
c.791G>A
1 paper
NM_001114632.2
p.L269L
c.807C>T
1 paper
NM_001114632.2
p.Y270C
c.809A>G
1 paper
NM_001114632.2
p.E221_G222del2
c.661_665del6
1 paper
NM_001114632.2
p.L218L
c.652C>T
1 paper
NM_001114632.2
p.L298F
c.892C>T
1 paper
NM_001114632.2
p.Q217R
c.650A>G
1 paper
NM_001114632.2
p.S301G
c.901A>G
1 paper
NM_001114632.2
p.L185V
c.553C>G
1 paper
NM_001114632.2
p.L157L
c.471G>T
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