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.Q988_E989Splc

c.2965-4A>G

Surrounding Variants

1 paper

NM_001270.4

p.V1011L

c.3031G>C

1 paper

NM_001270.4

p.V1011fs

c.3031_3032fs

1 paper

NM_001270.4

p.V1011delFs

c.3031_3032delAC

5 papers

NM_001270.4

p.L1016V

c.3046C>G

1 paper

NM_001270.4

p.Q988_E989Splc

c.2964+2T>A

1 paper

NM_001270.4

p.L976I

c.2926C>A

1 paper

NM_001270.4

p.P959_K962del4

c.2875_2885del12

1 paper

NM_001270.4

p.S956I

c.2867G>T

1 paper

NM_001270.4

p.S956I

c.2867G>T

1 paper

NM_001270.4

p.S955fs

c.2863_2864fs

1 paper

NM_001270.4

p.P954insFs

c.2861dupC

1 paper

NM_001270.4

p.H949R

c.2846A>G