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.P645H

c.1934C>A

Surrounding Variants

1 paper

NM_001270.4

p.S649F

c.1946C>T

5 papers

NM_001270.4

p.R618Q

c.1853G>A

1 paper

NM_001270.4

p.R618*

c.1852C>T

1 paper

NM_001270.4

p.K600_A601Splc

c.1801-2A>T

1 paper

NM_001270.4

p.S667F

c.2000C>T

1 paper

NM_001270.4

p.W668C

c.2004G>T

1 paper

NM_001270.4

p.W668C

c.2004G>C

5 papers

NM_001270.4

p.E669V

c.2006A>T

1 paper

NM_001270.4

p.E672*

c.2014G>T

1 paper

NM_001270.4

p.F671insFs

c.2013dupT

1 paper

NM_001270.4

p.F693L

c.2077T>C

1 paper

NM_001270.4

p.F693L

c.2079T>G