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.L1236P

c.3707T>C

NM_001005271.3

p.L1295P

c.3884T>C

Surrounding Variants

1 paper

NM_001005271.3

p.F1296L

c.3886T>C

1 paper

NM_001005271.3

p.F1296L

c.3888C>A

1 paper

NM_001005271.3

p.F1296L

c.3888C>G

1 paper

NM_001005271.3

p.G1291D

c.3872G>A

1 paper

NM_001005273.3

p.D1226V

c.3677A>T

1 paper

NM_001005273.3

p.S1219F

c.3656C>T

3 papers

NM_001005273.3

p.M1203del1

c.3607_3608delATG

NM_001005271.3

p.M1262del1

c.3784_3785delATG

1 paper

NM_001005273.3

p.K1201_T1205del0

c.3603_3614del12

1 paper

NM_001005273.3

p.R1193*

c.3577C>T

1 paper

NM_001005273.3

p.A1188V

c.3563C>T

1 paper

NM_001005273.3

p.R1187R

c.3561C>T

4 papers

NM_001005273.3

p.R1187P

c.3560G>C

NM_001005271.3

p.R1246P

c.3737G>C