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.R839C

c.2515C>T

Surrounding Variants

1 paper

NM_001308319.2

p.W845R

c.2533T>A

1 paper

NM_001308319.2

p.W845R

c.2533T>C

2 papers

NM_001308319.2

p.S851Y

c.2552C>A

1 paper

NM_001308319.2

p.R861R

c.2581A>C

1 paper

NM_001308319.2

p.Y863Y

c.2589T>C

1 paper

NM_001308319.2

p.N869S

c.2606A>G

1 paper

NM_001308319.2

p.N874Y

c.2620A>T

1 paper

NM_001308319.2

p.L883F

c.2649A>C

1 paper

NM_001308319.2

p.L883F

c.2649A>T

1 paper

NM_001308319.2

p.T892I

c.2675C>T

1 paper

NM_001308319.2

p.T892T

c.2676T>A

1 paper

NM_001308319.2

p.Q894E

c.2680C>G