Varaico: Literature-Extracted Genetic Variants

Gene:HDAC9
Variant:p.R248Q

HDAC9

203 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 37–124UCSCGlutamine rich N terminal domain of histone deacetylase 4
Hist_deacetylaa 654–972UCSCHistone deacetylase domain

Gene Aliases

HGNC Name

histone deacetylase 9

HGNC Alias Symbols

KIAA0744; MITR; HD7; HDAC7B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178425.4
p.R248Q
c.743G>A
Surrounding Variants
1 paper
NM_178425.4
p.R247R
c.741G>A
1 paper
NM_178425.4
p.G251A
c.752G>C
1 paper
NM_178425.4
p.S243N
c.728G>A
1 paper
NM_178425.4
p.R240S
c.720G>T
1 paper
NM_178425.4
p.R240K
c.719G>A
1 paper
NM_178425.4
p.R240T
c.719G>C
1 paper
NM_178425.4
p.F262F
c.786T>C
1 paper
NM_178425.4
p.R230W
c.688C>T
2 papers
NM_178425.4
p.R230fs
c.688_689fs
1 paper
NM_178425.4
p.V229_R230insFs
c.687_688insA
1 paper
NM_178425.4
p.S273C
c.818C>G
1 paper
NM_178425.4
p.S279C
c.835A>T
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