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

10 papers

NM_001271.4

p.K1245insFs

c.3734dupA

Surrounding Variants

3 papers

NM_001271.4

p.E1242K

c.3724G>A

2 papers

NM_001271.4

p.E1242fs

c.3724_3725fs

8 papers

NM_001271.4

p.E1242delFs

c.3725delA

1 paper

NM_001271.4

p.E1242fs

c.3724_3725fs

1 paper

NM_001271.4

p.E1241*

c.3721G>T

7 papers

NM_001271.4

p.K1245fs

c.3733_3734fs

1 paper

NM_001271.4

p.K1245Splc

c.3734+2T>G

1 paper

NM_001271.4

p.K1234*

c.3700A>T

1 paper

NM_001271.4

p.K1234fs

c.3700_3701fs

1 paper

NM_001271.4

p.K1234_I1236delFs

c.3700_3707del8

1 paper

NM_001271.4

p.E1226*

c.3676G>T

1 paper

NM_001271.4

p.S1221F

c.3662C>T