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_001005273.3

p.H1161R

c.3482A>G

NM_001005271.3

p.H1220R

c.3659A>G

Surrounding Variants

1 paper

NM_001005273.3

p.H1161L

c.3482A>T

1 paper

NM_001005273.3

p.H1161Y

c.3481C>T

8 papers

NM_001005273.3

p.N1159K

c.3477C>A

NM_001005271.3

p.N1218K

c.3654C>A

4 papers

NM_001005273.3

p.N1159K

c.3477C>G

NM_001005271.3

p.N1218K

c.3654C>G

3 papers

NM_001005273.3

p.W1158R

c.3472T>A

NM_001005271.3

p.W1217R

c.3649T>A

3 papers

NM_001005273.3

p.W1158R

c.3472T>C

NM_001005271.3

p.W1217R

c.3649T>C

1 paper

NM_001005273.3

p.I1153del1

c.3457_3459delATC

1 paper

NM_001005273.3

p.D1149E

c.3447C>A

1 paper

NM_001005273.3

p.D1149E

c.3447C>G

1 paper

NM_001005273.3

p.A1146T

c.3436G>A

2 papers

NM_001005273.3

p.T1136I

c.3407C>T

NM_001005271.3

p.T1195I

c.3584C>T

2 papers

NM_001005273.3

p.T1136P

c.3406A>C

NM_001005271.3

p.T1195P

c.3583A>C