Varaico: Literature-Extracted Genetic Variants

CHD9

16q12.2 (UCSC)OMIM GTEx

159 papers

Pfam Domains

Chromoaa 690–752UCSCChromo (CHRromatin Organisation MOdifier) domain

Chromoaa 773–827UCSCChromo (CHRromatin Organisation MOdifier) domain

SNF2-rel_domaa 863–1149UCSCSNF2-related domain

Helicase_Caa 1182–1296UCSCHelicase conserved C-terminal domain

HTH_CHD6-9aa 1817–1918UCSCChromodomain-helicase-DNA-binding protein 6-9, tri-helical

BRKaa 2481–2523UCSCBRK domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 9

HGNC Alias Symbols

FLJ12178; KIAA0308; BC022889

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001308319.2

p.R1237Q

c.3710G>A

Surrounding Variants

1 paper

NM_001308319.2

p.R1227*

c.3679C>T

1 paper

NM_001308319.2

p.T1258P

c.3772A>C

1 paper

NM_001308319.2

p.I1265V

c.3793A>G

1 paper

NM_001308319.2

p.I1275M

c.3825T>G

1 paper

NM_001308319.2

p.D1277H

c.3829G>C

1 paper

NM_001308319.2

p.W1280G

c.3838T>G

2 papers

NM_001308319.2

p.Q1283Q

c.3849G>A

1 paper

NM_001308319.2

p.M1207V

c.3619A>G

1 paper

NM_001308319.2

p.S1205F

c.3614C>T

2 papers

NM_001308319.2

p.M1177V

c.3529A>G

1 paper

NM_001308319.2

p.M1137V

c.3409A>G

1 paper

NM_001308319.2

p.N1129fs

c.3385_3386fs