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

3 papers

NM_001270.4

p.T878A

c.2632A>G

Surrounding Variants

1 paper

NM_001270.4

p.R865_L873del9

c.2593_2618del27

1 paper

NM_001270.4

p.L862L

c.2584C>T

1 paper

NM_001270.4

p.D857G

c.2570A>G

1 paper

NM_001270.4

p.R900R

c.2700A>G

1 paper

NM_001270.4

p.E856_D857Splc

c.2569-11A>G

1 paper

NM_001270.4

p.V907L

c.2719G>T

1 paper

NM_001270.4

p.V907L

c.2719G>C

1 paper

NM_001270.4

p.A926A

c.2778G>A

1 paper

NM_001270.4

p.Q938H

c.2814A>T

1 paper

NM_001270.4

p.H949N

c.2845C>A

1 paper

NM_001270.4

p.H949R

c.2846A>G

1 paper

NM_001270.4

p.P954insFs

c.2861dupC