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.S1629C

c.4886C>G

Surrounding Variants

1 paper

NM_001270.4

p.H1628delFs

c.4883delT

1 paper

NM_001270.4

p.H1628fs

c.4882_4883fs

1 paper

NM_001270.4

p.R1632C

c.4894C>T

1 paper

NM_001270.4

p.H1640Y

c.4918C>T

1 paper

NM_001270.4

p.S1645*

c.4934C>G

1 paper

NM_001270.4

p.S1645*

c.4934C>A

1 paper

NM_001270.4

p.S1646fs

c.4936_4937fs

1 paper

NM_001270.4

p.S1646insFs

c.4937dupG

4 papers

NM_001270.4

p.T1650M

c.4949C>T

1 paper

NM_001270.4

p.H1652Y

c.4954C>T

1 paper

NM_001270.4

p.E1602_K1603delFs

c.4804_4807del4

1 paper

NM_001270.4

p.E1602fs

c.4804_4805fs