Varaico: Literature-Extracted Genetic Variants

Gene:HDAC6
Variant:p.M142V

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.M142V
c.424A>G
Surrounding Variants
1 paper
NM_006044.4
p.L141L
c.423G>C
1 paper
NM_006044.4
p.R134W
c.400C>T
1 paper
NM_006044.4
p.Q132Q
c.396G>A
1 paper
NM_006044.4
p.C128S
c.383G>C
1 paper
NM_006044.4
p.C128S
c.382T>A
1 paper
NM_006044.4
p.R127L
c.380G>T
1 paper
NM_006044.4
p.R127S
c.379C>A
2 papers
NM_006044.4
p.I120F
c.358A>T
3 papers
NM_006044.4
p.K116N
c.348G>C
2 papers
NM_006044.4
p.K116R
c.347A>G
1 paper
NM_006044.4
p.R111Q
c.332G>A
4 papers
NM_006044.4
p.E107E
c.321A>G
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