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.W1705R

c.5113T>C

Surrounding Variants

1 paper

NM_001270.4

p.W1705R

c.5113T>A

3 papers

NM_001270.4

p.R1708Q

c.5123G>A

2 papers

NM_001270.4

p.*1711delFs

c.5131_5132delTA

1 paper

NM_001270.4

p.S1694*

c.5081C>G

1 paper

NM_001270.4

p.S1694*

c.5081C>A

1 paper

NM_001270.4

p.E1692E

c.5076A>G

11 papers

NM_001270.4

p.P1684del1

c.5050_5051delAGG

1 paper

NM_001270.4

p.Q1681*

c.5041C>T

1 paper

NM_001270.4

p.Q1681E

c.5041C>G

1 paper

NM_001270.4

p.P1675L

c.5024C>T

1 paper

NM_001270.4

p.S1672C

c.5014A>T

1 paper

NM_001270.4

p.D1663N

c.4987G>A