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

2 papers

NM_001308319.2

p.F2295L

c.6883T>C

Surrounding Variants

2 papers

NM_001308319.2

p.F2295L

c.6885C>A

2 papers

NM_001308319.2

p.F2295L

c.6885C>G

1 paper

NM_001308319.2

p.S2294F

c.6881C>T

1 paper

NM_001308319.2

p.R2284G

c.6850A>G

1 paper

NM_001308319.2

p.S2311S

c.6933C>T

4 papers

NM_001308319.2

p.D2312E

c.6936T>A

4 papers

NM_001308319.2

p.D2312E

c.6936T>G

1 paper

NM_001308319.2

p.L2276M

c.6826C>A

1 paper

NM_001308319.2

p.I2349M

c.7047C>G

1 paper

NM_001308319.2

p.G2363G

c.7089G>A

1 paper

NM_001308319.2

p.Q2366E

c.7096C>G

1 paper

NM_001308319.2

p.T2384A

c.7150A>G