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

2 papers

NM_001271.4

p.W1669*

c.5007G>A

Surrounding Variants

2 papers

NM_001271.4

p.W1669*

c.5006G>A

2 papers

NM_001271.4

p.H1668Y

c.5002C>T

1 paper

NM_001271.4

p.E1666D

c.4998G>C

1 paper

NM_001271.4

p.E1666D

c.4998G>T

1 paper

NM_001271.4

p.G1676R

c.5026G>A

1 paper

NM_001271.4

p.G1676R

c.5026G>C

2 papers

NM_001271.4

p.H1663fs

c.4987_4988fs

1 paper

NM_001271.4

p.G1676E

c.5027G>A

2 papers

NM_001271.4

p.H1663insFs

c.4987dupC

1 paper

NM_001271.4

p.D1677N

c.5029G>A

1 paper

NM_001271.4

p.D1677G

c.5030A>G

1 paper

NM_001271.4

p.R1678W

c.5032C>T