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

1 paper

NM_001271.4

p.D856E

c.2568T>G

Surrounding Variants

1 paper

NM_001271.4

p.D856E

c.2568T>A

8 papers

NM_001271.4

p.D856G

c.2567A>G

1 paper

NM_001271.4

p.A855G

c.2564C>G

1 paper

NM_001271.4

p.S858Y

c.2573C>A

1 paper

NM_001271.4

p.F853I

c.2557T>A

1 paper

NM_001271.4

p.E859_D860Splc

c.2577+7T>C

5 papers

NM_001271.4

p.R846Q

c.2537G>A

2 papers

NM_001271.4

p.R846*

c.2536C>T

1 paper

NM_001271.4

p.K842E

c.2524A>G

1 paper

NM_001271.4

p.G839D

c.2516G>A

1 paper

NM_001271.4

p.G839C

c.2515G>T

1 paper

NM_001271.4

p.R836C

c.2506C>T