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

1–12 of 346 variants

8 papers

NM_001005273.3

p.R1172Q

c.3515G>A

6 papers

NM_001005273.3

p.N1159K

c.3477C>A

6 papers

NM_001005273.3

p.R1169W

c.3505C>T

5 papers

NM_001005273.3

p.R985W

c.2953C>T

5 papers

NM_001005273.3

p.R1121P

c.3362G>C

4 papers

NM_001005273.3

p.R966W

c.2896C>T

4 papers

NM_001005273.3

p.R985Q

c.2954G>A

4 papers

NM_001005273.3

p.R1881L

c.5642G>T

4 papers

NM_001005273.3

p.A1955S

c.5863G>T

3 papers

NM_001005273.3

p.G961E

c.2882G>A

3 papers

NM_001005273.3

p.N1159K

c.3477C>G

3 papers

NM_001005273.3

p.R1187P

c.3560G>C