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

5 papers

NM_001271.4

p.W1657*

c.4971G>A

Surrounding Variants

5 papers

NM_001271.4

p.W1657*

c.4970G>A

1 paper

NM_001271.4

p.G1658insFs

c.4973dupG

1 paper

NM_001271.4

p.W1657fs

c.4969_4970fs

1 paper

NM_001271.4

p.G1658_S1659delins

c.4974_4975delinsGG

1 paper

NM_001271.4

p.S1659G

c.4975A>G

1 paper

NM_001271.4

p.S1659fs

c.4975_4976fs

1 paper

NM_001271.4

p.P1656insFs

c.4968dupA

1 paper

NM_001271.4

p.P1656S

c.4966C>T

1 paper

NM_001271.4

p.D1660N

c.4978G>A

1 paper

NM_001271.4

p.D1660Y

c.4978G>T

1 paper

NM_001271.4

p.N1654K

c.4962T>A

1 paper

NM_001271.4

p.N1654K

c.4962T>G