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

1–12 of 327 variants

11 papers

NM_001270.4

p.P1684del1

c.5050_5051delAGG

5 papers

NM_001270.4

p.R618Q

c.1853G>A

5 papers

NM_001270.4

p.E669V

c.2006A>T

5 papers

NM_001270.4

p.L1016V

c.3046C>G

5 papers

NM_001270.4

p.L1517insFs

c.4549dupT

4 papers

NM_001270.4

p.L562delFs

c.1684delA

4 papers

NM_001270.4

p.T1650M

c.4949C>T

3 papers

NM_001270.4

p.R141G

c.421A>G

3 papers

NM_001270.4

p.R460K

c.1379G>A

3 papers

NM_001270.4

p.T878A

c.2632A>G

3 papers

NM_001270.4

p.R1708Q

c.5123G>A

2 papers

NM_001270.4

p.V96I

c.286G>A