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.Q892L

c.2675A>T

Surrounding Variants

1 paper

NM_001271.4

p.Q892fs

c.2674_2675fs

1 paper

NM_001271.4

p.D894V

c.2681A>T

1 paper

NM_001271.4

p.Q892delFs

c.2674delC

1 paper

NM_001271.4

p.W889_N890ins2

c.2667_2668ins6

1 paper

NM_001271.4

p.Q896*

c.2686C>T

1 paper

NM_001271.4

p.D888G

c.2663A>G

1 paper

NM_001271.4

p.D888V

c.2663A>T

1 paper

NM_001271.4

p.S887F

c.2660C>T

1 paper

NM_001271.4

p.S887delFs

c.2660_2661delCT

2 papers

NM_001271.4

p.R900G

c.2698C>G

2 papers

NM_001271.4

p.R900*

c.2698C>T

8 papers

NM_001271.4

p.R900Q

c.2699G>A