Varaico: Literature-Extracted Genetic Variants

CHD2

529 papers

RefSeq Summary

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by mo...

Pfam Domains

Chromoaa 296–344UCSCChromo (CHRromatin Organisation MOdifier) domain

Chromoaa 378–447UCSCChromo (CHRromatin Organisation MOdifier) domain

SNF2-rel_domaa 487–767UCSCSNF2-related domain

Helicase_Caa 791–905UCSCHelicase conserved C-terminal domain

CDH1_2_SANT_HL1aa 1129–1218UCSCCDH1/2 SANT-Helical linker 1

HTH_CHD1_Hrp3aa 1241–1324UCSCATP-dependent helicase CHD1-2/hrp3 HTH domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 2

HGNC Alias Symbols

FLJ38614; DKFZp547I1315; DKFZp781D1727; DKFZp686E01200

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001271.4

p.P187delFs

c.561delC

Surrounding Variants

1 paper

NM_001271.4

p.V186A

c.557T>C

2 papers

NM_001271.4

p.K188fs

c.562_563fs

1 paper

NM_001271.4

p.P189P

c.567T>A

1 paper

NM_001271.4

p.R190C

c.568C>T

2 papers

NM_001271.4

p.K192E

c.574A>G

1 paper

NM_001271.4

p.Q194*

c.580C>T

1 paper

NM_001271.4

p.P195T

c.583C>A

1 paper

NM_001271.4

p.Q198H

c.594G>C

1 paper

NM_001271.4

p.Q198H

c.594G>T

1 paper

NM_001271.4

p.G200E

c.599G>A

1 paper

NM_001271.4

p.R202G

c.604A>G

1 paper

NM_001271.4

p.K204insFs

c.611dupA