Varaico: Literature-Extracted Genetic Variants

Gene:JARID2

JARID2

206 papers

RefSeq Summary

This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein i...

Pfam Domains

JmjNaa 558–591UCSCjmjN domain
JmjNaa 558–591UCSCjmjN domain
ARIDaa 623–709UCSCARID/BRIGHT DNA binding domain
ARIDaa 623–709UCSCARID/BRIGHT DNA binding domain
JmjCaa 916–1031UCSCJmjC domain, hydroxylase
JmjCaa 916–1031UCSCJmjC domain, hydroxylase

Gene Aliases

HGNC Name

jumonji and AT-rich interaction domain containing 2

HGNC Previous Symbol

JMJ

Papers
RefSeq ID
Protein change
DNA change
1–12 of 257 variants
6 papers
NM_004973.4
p.V422fs
c.1264_1265fs
5 papers
NM_004973.4
p.Q638P
c.1913A>C
5 papers
NM_004973.4
p.V806I
c.2416G>A
4 papers
NM_004973.4
p.G394insFs
c.1180dupG
4 papers
NM_004973.4
p.R425fs
c.1273_1274fs
4 papers
NM_004973.4
p.R788Q
c.2363G>A
3 papers
NM_004973.4
p.H216Y
c.646C>T
3 papers
NM_004973.4
p.A396fs
c.1186_1187fs
3 papers
NM_004973.4
p.V422delFs
c.1266delG
3 papers
NM_004973.4
p.R492C
c.1474C>T
3 papers
NM_004973.4
p.E644K
c.1930G>A
3 papers
NM_004973.4
p.R827Q
c.2480G>A
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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."