Varaico: Literature-Extracted Genetic Variants

Gene:HDAC6
Variant:p.R165H

HDAC6

432 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 105–402UCSCHistone deacetylase domain
Hist_deacetylaa 500–798UCSCHistone deacetylase domain
zf-UBPaa 1133–1195UCSCZn-finger in ubiquitin-hydrolases and other protein

Gene Aliases

HGNC Name

histone deacetylase 6

HGNC Alias Symbols

KIAA0901; JM21; HD6; FLJ16239; PPP1R90; KDAC6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006044.4
p.R165H
c.494G>A
Surrounding Variants
1 paper
NM_006044.4
p.V166A
c.497T>C
3 papers
NM_006044.4
p.D169G
c.506A>G
1 paper
NM_006044.4
p.T170A
c.508A>G
1 paper
NM_006044.4
p.Y171Y
c.513C>T
1 paper
NM_006044.4
p.S188*
c.563C>A
1 paper
NM_006044.4
p.S188*
c.563C>G
1 paper
NM_006044.4
p.R193K
c.578G>A
1 paper
NM_006044.4
p.R193R
c.579G>A
2 papers
NM_006044.4
p.A197V
c.590C>T
1 paper
NM_006044.4
p.M142V
c.424A>G
1 paper
NM_006044.4
p.L141L
c.423G>C
1 paper
NM_006044.4
p.R134W
c.400C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."