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.F693L

c.2077T>C

Surrounding Variants

1 paper

NM_001270.4

p.F693L

c.2079T>G

1 paper

NM_001270.4

p.F693L

c.2079T>A

1 paper

NM_001270.4

p.L695_R696insFs

c.2085_2086insGA

1 paper

NM_001270.4

p.R696C

c.2086C>T

1 paper

NM_001270.4

p.R696fs

c.2086_2087fs

1 paper

NM_001270.4

p.R697Q

c.2090G>A

1 paper

NM_001270.4

p.V698I

c.2092G>A

1 paper

NM_001270.4

p.K704insFs

c.2112dupA

1 paper

NM_001270.4

p.S705fs

c.2113_2114fs

1 paper

NM_001270.4

p.E672*

c.2014G>T

1 paper

NM_001270.4

p.F671insFs

c.2013dupT

5 papers

NM_001270.4

p.E669V

c.2006A>T