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.G31G

c.93A>G

Surrounding Variants

1 paper

NM_001308319.2

p.G21D

c.62G>A

1 paper

NM_001308319.2

p.P47fs

c.139_140fs

2 papers

NM_001308319.2

p.N13S

c.38A>G

1 paper

NM_001308319.2

p.D11H

c.31G>C

1 paper

NM_001308319.2

p.T2I

c.5C>T

1 paper

NM_001308319.2

p.L71F

c.213A>C

1 paper

NM_001308319.2

p.L71F

c.213A>T

1 paper

NM_001308319.2

p.Q99fs

c.295_296fs

1 paper

NM_001308319.2

p.P107L

c.320C>T

1 paper

NM_001308319.2

p.G113D

c.338G>A

1 paper

NM_001308319.2

p.D120N

c.358G>A

1 paper

NM_001308319.2

p.H127H

c.381T>C