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.V1215fs

c.3643_3644fs

Surrounding Variants

5 papers

NM_001271.4

p.G1214*

c.3640G>T

1 paper

NM_001271.4

p.S1213fs

c.3637_3638fs

1 paper

NM_001271.4

p.V1217D

c.3650T>A

1 paper

NM_001271.4

p.I1212T

c.3635T>C

1 paper

NM_001271.4

p.I1212insFs

c.3636dupA

1 paper

NM_001271.4

p.I1210M

c.3630C>G

1 paper

NM_001271.4

p.S1221F

c.3662C>T

1 paper

NM_001271.4

p.E1226*

c.3676G>T

1 paper

NM_001271.4

p.G1201A

c.3602G>C

1 paper

NM_001271.4

p.G1201fs

c.3601_3602fs

1 paper

NM_001271.4

p.K1200delFs

c.3600delA

1 paper

NM_001271.4

p.K1234_I1236delFs

c.3700_3707del8