Varaico: Literature-Extracted Genetic Variants

Gene:HDAC6
Variant:p.A946A

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.A946A
c.2838C>A
Surrounding Variants
1 paper
NM_006044.4
p.A946D
c.2837C>A
1 paper
NM_006044.4
p.P948Q
c.2843C>A
1 paper
NM_006044.4
p.D963A
c.2888A>C
1 paper
NM_006044.4
p.I929T
c.2786T>C
1 paper
NM_006044.4
p.Q922*
c.2764C>T
1 paper
NM_006044.4
p.A918_T919del2
c.2752_2756del6
1 paper
NM_006044.4
p.Q978H
c.2934G>C
1 paper
NM_006044.4
p.Q978H
c.2934G>T
1 paper
NM_006044.4
p.E982G
c.2945A>G
1 paper
NM_006044.4
p.E982D
c.2946G>C
1 paper
NM_006044.4
p.E982D
c.2946G>T
1 paper
NM_006044.4
p.P910S
c.2728C>T
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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."