Varaico: Literature-Extracted Genetic Variants

Gene:HDAC8
Variant:p.R313*

HDAC8

207 papers

RefSeq Summary

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription f...

Pfam Domains

Hist_deacetylaa 32–189UCSCHistone deacetylase domain
Hist_deacetylaa 184–296UCSCHistone deacetylase domain

Gene Aliases

HGNC Name

histone deacetylase 8

HGNC Previous Symbols

HDACL1; WTS; MRXS6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018486.3
p.R313*
c.937C>T
Surrounding Variants
1 paper
NM_018486.3
p.R313Q
c.938G>A
10 papers
NM_018486.3
p.T311M
c.932C>T
2 papers
NM_018486.3
p.W315R
c.943T>C
2 papers
NM_018486.3
p.W315R
c.943T>A
1 paper
NM_018486.3
p.Y317C
c.950A>G
1 paper
NM_018486.3
p.L318*
c.953T>A
1 paper
NM_018486.3
p.T319I
c.956C>T
13 papers
NM_018486.3
p.Y306F
c.917A>T
13 papers
NM_018486.3
p.G320R
c.958G>C
14 papers
NM_018486.3
p.G320R
c.958G>A
2 papers
NM_018486.3
p.G305A
c.914G>C
3 papers
NM_018486.3
p.G305S
c.913G>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."