Varaico: Literature-Extracted Genetic Variants

HDAC4

311 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 62–152UCSCGlutamine rich N terminal domain of histone deacetylase 4

Hist_deacetylaa 675–992UCSCHistone deacetylase domain

Gene Aliases

HGNC Name

histone deacetylase 4

HGNC Previous Symbol

BDMR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001378414.1

p.A245Splc

c.734-7T>C

Surrounding Variants

8 papers

NM_001378414.1

p.S246A

c.736T>G

1 paper

NM_001378414.1

p.E247K

c.739G>A

1 paper

NM_001378414.1

p.E247G

c.740A>G

1 paper

NM_001378414.1

p.P248A

c.742C>G

1 paper

NM_001378414.1

p.P248L

c.743C>T

1 paper

NM_001378414.1

p.S254P

c.760T>C

1 paper

NM_001378414.1

p.L256L

c.768A>T

1 paper

NM_001378414.1

p.V260delFs

c.778_779delAC

1 paper

NM_001378414.1

p.A261fs

c.781_782fs

7 papers

NM_001378414.1

p.E262D

c.786A>T

1 paper

NM_001378414.1

p.A261_R264delFs

c.782_792del11

1 paper

NM_001378414.1

p.S265T

c.794G>C