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

5 papers

NM_001005273.3

p.R985Q

c.2954G>A

NM_001005271.3

p.R1044Q

c.3131G>A

Surrounding Variants

2 papers

NM_001005273.3

p.R985P

c.2954G>C

NM_001005271.3

p.R1044P

c.3131G>C

6 papers

NM_001005273.3

p.R985W

c.2953C>T

NM_001005271.3

p.R1044W

c.3130C>T

1 paper

NM_001005273.3

p.L988I

c.2962C>A

1 paper

NM_001005273.3

p.K974N

c.2922G>T

2 papers

NM_001005271.3

p.K1028E

c.3082A>G

NM_001005273.3

p.K969E

c.2905A>G

1 paper

NM_001005273.3

p.L968V

c.2902C>G

1 paper

NM_001005271.3

p.R1025Q

c.3074G>A

2 papers

NM_001005273.3

p.R966P

c.2897G>C

5 papers

NM_001005273.3

p.R966W

c.2896C>T

NM_001005271.3

p.R1025W

c.3073C>T

1 paper

NM_001005271.3

p.L1024P

c.3071T>C

4 papers

NM_001005273.3

p.G961E

c.2882G>A

NM_001005271.3

p.G1020E

c.3059G>A

1 paper

NM_001005273.3

p.G961R

c.2881G>A