Varaico: Literature-Extracted Genetic Variants

CHD1

276 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 m...

Pfam Domains

Chromoaa 307–355UCSCChromo (CHRromatin Organisation MOdifier) domain

Chromoaa 389–443UCSCChromo (CHRromatin Organisation MOdifier) domain

SNF2-rel_domaa 484–764UCSCSNF2-related domain

Helicase_Caa 788–902UCSCHelicase conserved C-terminal domain

CDH1_2_SANT_HL1aa 1124–1210UCSCCDH1/2 SANT-Helical linker 1

HTH_CHD1_Hrp3aa 1233–1316UCSCATP-dependent helicase CHD1-2/hrp3 HTH domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001270.4

p.R1560*

c.4678C>T

Surrounding Variants

1 paper

NM_001270.4

p.R1560Q

c.4679G>A

2 papers

NM_001270.4

p.H1561Y

c.4681C>T

1 paper

NM_001270.4

p.Q1562*

c.4684C>T

1 paper

NM_001270.4

p.H1557_K1558Fs

c.4670_4672delinsCFs

1 paper

NM_001270.4

p.H1557fs

c.4669_4670fs

1 paper

NM_001270.4

p.T1551_Q1552delFs

c.4651_4655del5

1 paper

NM_001270.4

p.S1569fs

c.4705_4706fs

1 paper

NM_001270.4

p.T1551fs

c.4651_4652fs

1 paper

NM_001270.4

p.S1546F

c.4637C>T

1 paper

NM_001270.4

p.R1586H

c.4757G>A

1 paper

NM_001270.4

p.L1530*

c.4589T>G

1 paper

NM_001270.4

p.L1530*

c.4589T>A