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.A869delins

c.2605_2606delinsTT

Surrounding Variants

2 papers

NM_001271.4

p.G870R

c.2608G>C

4 papers

NM_001271.4

p.G870D

c.2609G>A

1 paper

NM_001271.4

p.T867A

c.2599A>G

2 papers

NM_001271.4

p.G871D

c.2612G>A

3 papers

NM_001271.4

p.S866L

c.2597C>T

1 paper

NM_001271.4

p.G873E

c.2618G>A

1 paper

NM_001271.4

p.L864V

c.2590C>G

3 papers

NM_001271.4

p.A879V

c.2636C>T

5 papers

NM_001271.4

p.V882F

c.2644G>T

1 paper

NM_001271.4

p.V883D

c.2648T>A

1 paper

NM_001271.4

p.S887delFs

c.2660_2661delCT

1 paper

NM_001271.4

p.S887F

c.2660C>T