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

8 papers

NM_001271.4

p.E1412fs

c.4234_4235fs

Surrounding Variants

1 paper

NM_001271.4

p.E1412_G1413delFs

c.4235_4238del4

1 paper

NM_001271.4

p.K1411fs

c.4231_4232fs

7 papers

NM_001271.4

p.K1411_E1412delFs

c.4233_4236del4

1 paper

NM_001271.4

p.D1410fs

c.4228_4229fs

1 paper

NM_001271.4

p.E1416insFs

c.4246_4247insG

2 papers

NM_001271.4

p.K1419_E1425delFs

c.4256_4274del19

2 papers

NM_001271.4

p.S1407T

c.4219T>A

1 paper

NM_001271.4

p.K1418_K1419delFs

c.4254_4255delGA

1 paper

NM_001271.4

p.K1419fs

c.4255_4256fs

1 paper

NM_001271.4

p.D1422Y

c.4264G>T

1 paper

NM_001271.4

p.D1422G

c.4265A>G

2 papers

NM_001271.4

p.K1426fs

c.4276_4277fs