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

1–12 of 267 variants

4 papers

NM_001308319.2

p.D2312E

c.6936T>A

4 papers

NM_001308319.2

p.D2312E

c.6936T>G

3 papers

NM_001308319.2

p.N209S

c.626A>G

2 papers

NM_001308319.2

p.N13S

c.38A>G

2 papers

NM_001308319.2

p.Q288*

c.862C>T

2 papers

NM_001308319.2

p.K666M

c.1997A>T

2 papers

NM_001308319.2

p.V701I

c.2101G>A

2 papers

NM_001308319.2

p.R839C

c.2515C>T

2 papers

NM_001308319.2

p.S851Y

c.2552C>A

2 papers

NM_001308319.2

p.E901K

c.2701G>A

2 papers

NM_001308319.2

p.M1177V

c.3529A>G

2 papers

NM_001308319.2

p.Q1283Q

c.3849G>A