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

3 papers

NM_001308319.2

p.N209S

c.626A>G

Surrounding Variants

1 paper

NM_001308319.2

p.R207G

c.619A>G

1 paper

NM_001308319.2

p.Q215insFs

c.644_645insA

1 paper

NM_001308319.2

p.L193V

c.577C>G

1 paper

NM_001308319.2

p.S192Y

c.575C>A

1 paper

NM_001308319.2

p.G189E

c.566G>A

1 paper

NM_001308319.2

p.T234M

c.701C>T

1 paper

NM_001308319.2

p.Q170*

c.508C>T

1 paper

NM_001308319.2

p.N266I

c.797A>T

1 paper

NM_001308319.2

p.H146L

c.437A>T

1 paper

NM_001308319.2

p.G145*

c.433G>T

1 paper

NM_001308319.2

p.F276L

c.826T>C

1 paper

NM_001308319.2

p.F276L

c.828T>A