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.P532L

c.1595C>T

Surrounding Variants

1 paper

NM_001270.4

p.L534fs

c.1600_1601fs

1 paper

NM_001270.4

p.F524L

c.1572T>G

1 paper

NM_001270.4

p.F524L

c.1572T>A

1 paper

NM_001270.4

p.F524L

c.1570T>C

1 paper

NM_001270.4

p.S540S

c.1620C>G

1 paper

NM_001270.4

p.S540S

c.1620C>A

1 paper

NM_001270.4

p.Q546*

c.1636C>T

1 paper

NM_001270.4

p.T513A

c.1537A>G

4 papers

NM_001270.4

p.L562delFs

c.1684delA

1 paper

NM_001270.4

p.K498R

c.1493A>G

1 paper

NM_001270.4

p.K498R

c.1493A>G

1 paper

NM_001270.4

p.S495P

c.1483T>C