Varaico: Literature-Extracted Genetic Variants

Gene:HDAC6
Variant:p.M554L

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.M554L
c.1660A>C
Surrounding Variants
1 paper
NM_006044.4
p.M554L
c.1660A>T
1 paper
NM_006044.4
p.A550V
c.1649C>T
1 paper
NM_006044.4
p.L559R
c.1676T>G
1 paper
NM_006044.4
p.R561S
c.1681C>A
1 paper
NM_006044.4
p.N565S
c.1694A>G
1 paper
NM_006044.4
p.D567A
c.1700A>C
2 papers
NM_006044.4
p.S568A
c.1702T>G
1 paper
NM_006044.4
p.Y570F
c.1709A>T
1 paper
NM_006044.4
p.F576F
c.1728C>T
1 paper
NM_006044.4
p.A586P
c.1756G>C
3 papers
NM_006044.4
p.R522G
c.1564C>G
1 paper
NM_006044.4
p.L508S
c.1523T>C
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