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.E124_D125Splc

c.373-114T>G

Surrounding Variants

1 paper

NM_001270.4

p.S126Y

c.377C>A

1 paper

NM_001270.4

p.S129T

c.386G>C

1 paper

NM_001270.4

p.D133G

c.398A>G

3 papers

NM_001270.4

p.R141G

c.421A>G

1 paper

NM_001270.4

p.K142Q

c.424A>C

1 paper

NM_001270.4

p.K143*

c.427A>T

1 paper

NM_001270.4

p.E123K

c.367G>A

1 paper

NM_001270.4

p.A116_S118del0

c.346_354del9

1 paper

NM_001270.4

p.Q115K

c.343C>A

1 paper

NM_001270.4

p.Q113_H114del1

c.339_341delTGT

1 paper

NM_001270.4

p.Q112Q

c.336A>G

1 paper

NM_001270.4

p.Q108Q

c.324G>A