Varaico: Literature-Extracted Genetic Variants

Gene:HR

HR

796 papers

RefSeq Summary

This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic aci...

Pfam Domains

JmjCaa 1026–1140UCSCJmjC domain, hydroxylase

Gene Aliases

HGNC Name

HR lysine demethylase and nuclear receptor corepressor

HGNC Previous Symbol

ALUNC

Papers
RefSeq ID
Protein change
DNA change
1–12 of 719 variants
9 papers
NM_005144.5
p.G337D
c.1010G>A
8 papers
NM_005144.5
p.D1012N
c.3034G>A
8 papers
NM_005144.5
p.T1022A
c.3064A>G
7 papers
NM_005144.5
p.C622G
c.1864T>G
7 papers
NM_005144.5
p.V1056M
c.3166G>A
6 papers
NM_005144.5
p.T4T
c.12G>C
6 papers
NM_005144.5
p.N970S
c.2909A>G
5 papers
NM_005144.5
p.T4T
c.12G>A
5 papers
NM_005144.5
p.R620Q
c.1859G>A
5 papers
NM_005144.5
p.R940*
c.2818C>T
5 papers
NM_005144.5
p.V1136D
c.3407T>A
4 papers
NM_005144.5
p.P214P
c.642C>G
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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."