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.K1389Q

c.4165A>C

Surrounding Variants

1 paper

NM_001271.4

p.K1389fs

c.4165_4166fs

1 paper

NM_001271.4

p.K1389fs

c.4165_4166fs

23 papers

NM_001271.4

p.K1391insFs

c.4173dupA

1 paper

NM_001271.4

p.K1391delFs

c.4173delA

1 paper

NM_001271.4

p.M1388insFs

c.4164dupG

3 papers

NM_001271.4

p.M1388delFs

c.4164delG

2 papers

NM_001271.4

p.M1388fs

c.4162_4163fs

2 papers

NM_001271.4

p.K1391fs

c.4171_4172fs

1 paper

NM_001271.4

p.P1387fs

c.4159_4160fs

2 papers

NM_001271.4

p.S1386fs

c.4156_4157fs

3 papers

NM_001271.4

p.Q1392fs

c.4174_4175fs

20 papers

NM_001271.4

p.Q1392fs

c.4174_4175fs