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.E1900insFs

c.5699_5700ins4

Surrounding Variants

1 paper

NM_001005273.3

p.R1901C

c.5701C>T

1 paper

NM_001005273.3

p.M1898I

c.5694G>A

1 paper

NM_001005273.3

p.R1888Q

c.5663G>A

1 paper

NM_001005273.3

p.E1913*

c.5737G>T

5 papers

NM_001005273.3

p.R1881L

c.5642G>T

NM_001005271.3

p.R1940L

c.5819G>T

1 paper

NM_001005273.3

p.L1865fs

c.5593_5594fs

1 paper

NM_001005273.3

p.A1934_F1935insFs

c.5802_5803ins4

2 papers

NM_001005273.3

p.F1935fs

c.5803_5804fs

NM_001005271.3

p.F1994fs

c.5980_5981fs

1 paper

NM_001005273.3

p.A1938T

c.5812G>A

1 paper

NM_001005273.3

p.A1938_P1939del1

c.5813_5815delCAC

1 paper

NM_001005273.3

p.Y1950delFs

c.5850delC

1 paper

NM_001005273.3

p.S1951S

c.5853C>T