Varaico: Literature-Extracted Genetic Variants

Gene:HDAC6
Variant:p.V69V

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.V69V
c.207G>A
Surrounding Variants
1 paper
NM_006044.4
p.M74T
c.221T>C
1 paper
NM_006044.4
p.L59P
c.176T>C
1 paper
NM_006044.4
p.G54fs
c.160_161fs
1 paper
NM_006044.4
p.G54delFs
c.161delG
1 paper
NM_006044.4
p.K53R
c.158A>G
1 paper
NM_006044.4
p.K51R
c.152A>G
1 paper
NM_006044.4
p.K51M
c.152A>T
1 paper
NM_006044.4
p.K51insFs
c.151_152insC
1 paper
NM_006044.4
p.R42H
c.125G>A
1 paper
NM_006044.4
p.A39A
c.117C>T
1 paper
NM_006044.4
p.S31_K32Splc
c.94-27A>T
1 paper
NM_006044.4
p.L76M
c.226C>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."