Varaico: Literature-Extracted Genetic Variants

CHD4

507 papers

RefSeq Summary

The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic tran...

Pfam Domains

CHDNTaa 164–217UCSCCHDNT (NUC034) domain

PHDaa 373–414UCSCPHD-finger

PHDaa 452–493UCSCPHD-finger

Chromoaa 622–674UCSCChromo (CHRromatin Organisation MOdifier) domain

SNF2-rel_domaa 729–1024UCSCSNF2-related domain

Helicase_Caa 1050–1164UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 4

HGNC Alias Symbols

Mi-2b; Mi2-BETA

Papers

RefSeq ID

Protein change

DNA change

1–12 of 863 variants

17 papers

NM_001273.5

p.R975H

c.2924G>A

15 papers

NM_001273.5

p.R1068H

c.3203G>A

15 papers

NM_001273.5

p.R1127Q

c.3380G>A

15 papers

NM_001273.5

p.R1162W

c.3484C>T

12 papers

NM_001273.5

p.V1608I

c.4822G>A

11 papers

NM_001273.5

p.C467Y

c.1400G>A

10 papers

NM_001273.5

p.W1148L

c.3443G>T

9 papers

NM_001273.5

p.M202I

c.606G>A

9 papers

NM_001273.5

p.R572Q

c.1715G>A

9 papers

NM_001273.5

p.S851Y

c.2552C>A

9 papers

NM_001273.5

p.G1003D

c.3008G>A

9 papers

NM_001273.5

p.R1173L

c.3518G>T