Varaico: Literature-Extracted Genetic Variants

CHD3

200 papers

RefSeq Summary

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This prot...

Pfam Domains

CHDNTaa 148–201UCSCCHDNT (NUC034) domain

PHDaa 382–423UCSCPHD-finger

PHDaa 459–500UCSCPHD-finger

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 3

HGNC Alias Symbols

Mi-2a; ZFH; Mi2-ALPHA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001005271.3

p.H1230R

c.3689A>G

NM_001005273.3

p.H1171R

c.3512A>G

Surrounding Variants

1 paper

NM_001005273.3

p.R1172W

c.3514C>T

9 papers

NM_001005273.3

p.R1172Q

c.3515G>A

NM_001005271.3

p.R1231Q

c.3692G>A

2 papers

NM_001005273.3

p.R1169Q

c.3506G>A

NM_001005271.3

p.R1228Q

c.3683G>A

7 papers

NM_001005273.3

p.R1169W

c.3505C>T

NM_001005271.3

p.R1228W

c.3682C>T

2 papers

NM_001005273.3

p.S1168del1

c.3502_3503delAGC

NM_001005271.3

p.S1227del1

c.3502_3504delAGC

1 paper

NM_001005273.3

p.A1166T

c.3496G>A

1 paper

NM_001005271.3

p.A1225P

c.3673G>C

1 paper

NM_001005273.3

p.I1181F

c.3541A>T

1 paper

NM_001005271.3

p.R1242Q

c.3725G>A

1 paper

NM_001005273.3

p.F1184C

c.3551T>G

4 papers

NM_001005273.3

p.R1187P

c.3560G>C

NM_001005271.3

p.R1246P

c.3737G>C

1 paper

NM_001005273.3

p.R1187R

c.3561C>T