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

1–12 of 969 variants

23 papers

NM_001271.4

p.K1391insFs

c.4173dupA

20 papers

NM_001271.4

p.Q1392fs

c.4174_4175fs

15 papers

NM_001271.4

p.R1637*

c.4909C>T

10 papers

NM_001271.4

p.K1245insFs

c.3734dupA

10 papers

NM_001271.4

p.R1679*

c.5035C>T

9 papers

NM_001271.4

p.R121*

c.361C>T

9 papers

NM_001271.4

p.T645M

c.1934C>T

8 papers

NM_001271.4

p.P218L

c.653C>T

8 papers

NM_001271.4

p.D856G

c.2567A>G

8 papers

NM_001271.4

p.R900Q

c.2699G>A

8 papers

NM_001271.4

p.E1242delFs

c.3725delA

8 papers

NM_001271.4

p.E1412fs

c.4234_4235fs