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

1 paper

NM_001005273.3

p.Y1098*

c.3294T>G

Surrounding Variants

1 paper

NM_001005273.3

p.Y1098*

c.3294T>A

1 paper

NM_001005273.3

p.Y1098delFs

c.3293_3294delAT

1 paper

NM_001005273.3

p.Y1101H

c.3301T>C

3 papers

NM_001005271.3

p.G1168del1

c.3502_3504delGGT

NM_001005273.3

p.G1109del1

c.3325_3327delGGT

1 paper

NM_001005273.3

p.I1119_D1120delins

c.3357_3358delinsTC

1 paper

NM_001005273.3

p.D1120N

c.3358G>A

2 papers

NM_001005273.3

p.D1120H

c.3358G>C

NM_001005271.3

p.D1179H

c.3535G>C

6 papers

NM_001005273.3

p.R1121P

c.3362G>C

NM_001005271.3

p.R1180P

c.3539G>C

2 papers

NM_001005273.3

p.A1124V

c.3371C>T

NM_001005271.3

p.A1183V

c.3548C>T

1 paper

NM_001005273.3

p.A1124V

c.3371C>T

1 paper

NM_001005273.3

p.P1125T

c.3373C>A

2 papers

NM_001005273.3

p.T1136P

c.3406A>C

NM_001005271.3

p.T1195P

c.3583A>C