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.K458_R460delFs

c.1374_1378del5

Surrounding Variants

3 papers

NM_001270.4

p.R460K

c.1379G>A

1 paper

NM_001270.4

p.P461A

c.1381C>G

1 paper

NM_001270.4

p.Q459fs

c.1375_1376fs

1 paper

NM_001270.4

p.S471C

c.1412C>G

1 paper

NM_001270.4

p.L486M

c.1456C>A

1 paper

NM_001270.4

p.W491R

c.1471T>C

1 paper

NM_001270.4

p.W491R

c.1471T>A

1 paper

NM_001270.4

p.W491*

c.1472G>A

1 paper

NM_001270.4

p.A493P

c.1477G>C

1 paper

NM_001270.4

p.A493T

c.1477G>A

1 paper

NM_001270.4

p.S495P

c.1483T>C

1 paper

NM_001270.4

p.K498R

c.1493A>G