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

1 paper

NM_001378414.1

p.E543K

c.1627G>A

Surrounding Variants

1 paper

NM_001378414.1

p.L541V

c.1621C>G

1 paper

NM_006037.4

p.P522P

c.1566G>A

1 paper

NM_001378414.1

p.H526Y

c.1576C>T

1 paper

NM_001378414.1

p.V563A

c.1688T>C

1 paper

NM_001378414.1

p.K564N

c.1692G>C

1 paper

NM_001378414.1

p.E569delFs

c.1706delT

1 paper

NM_001378414.1

p.P516L

c.1547C>T

1 paper

NM_001378414.1

p.P516S

c.1546C>T

1 paper

NM_001378414.1

p.P578L

c.1733C>T

2 papers

NM_006037.4

p.R574W

c.1720C>T

1 paper

NM_001378414.1

p.Q598del1

c.1792_1794delTTG

1 paper

NM_006037.4

p.E598Q

c.1792G>C