Varaico: Literature-Extracted Genetic Variants

Gene:JMJD7

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
1–12 of 20 variants
2 papers
NM_001114632.2
p.R260C
c.778C>T
1 paper
NM_001114632.2
p.M1insFs
c.2_3insTC
1 paper
NM_001114632.2
p.V9M
c.25G>A
1 paper
NM_001114632.2
p.P70S
c.208C>T
1 paper
NM_001114632.2
p.A74delFs
c.221_222delCC
1 paper
NM_001114632.2
p.V85M
c.253G>A
1 paper
NM_001114632.2
p.A91A
c.273G>A
1 paper
NM_001114632.2
p.L143R
c.428T>G
1 paper
NM_001114632.2
p.L157L
c.471G>T
1 paper
NM_001114632.2
p.L185V
c.553C>G
1 paper
NM_001114632.2
p.Q217R
c.650A>G
1 paper
NM_001114632.2
p.L218L
c.652C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."