Varaico: Literature-Extracted Genetic Variants

Gene:HDAC5
Variant:p.L242V

HDAC5

138 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

HDAC4_Glnaa 67–164UCSCGlutamine rich N terminal domain of histone deacetylase 4
Hist_deacetylaa 704–1022UCSCHistone deacetylase domain

Gene Aliases

HGNC Name

histone deacetylase 5

HGNC Alias Symbols

KIAA0600; NY-CO-9; FLJ90614

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005474.5
p.L242V
c.724T>G
Surrounding Variants
1 paper
NM_005474.5
p.G233delFs
c.699delC
1 paper
NM_005474.5
p.G233insFs
c.697_698insA
1 paper
NM_005474.5
p.D251D
c.753C>T
1 paper
NM_005474.5
p.S224_P227del4
c.670_680del12
9 papers
NM_005474.5
p.S259A
c.775T>G
1 paper
NM_005474.5
p.R266H
c.797G>A
1 paper
NM_005474.5
p.L269I
c.805C>A
1 paper
NM_005474.5
p.K285R
c.854A>G
1 paper
NM_005474.5
p.T292A
c.874A>G
1 paper
NM_005474.5
p.K295E
c.883A>G
1 paper
NM_005474.5
p.Q209P
c.626A>C
1 paper
NM_005474.5
p.S193T
c.577T>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."