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.N722delFs

c.2164_2165delAA

Surrounding Variants

1 paper

NM_001308319.2

p.S706S

c.2118A>G

1 paper

NM_001308319.2

p.K703delFs

c.2108delA

2 papers

NM_001308319.2

p.V701I

c.2101G>A

1 paper

NM_001308319.2

p.E682E

c.2046G>A

1 paper

NM_001308319.2

p.E682D

c.2046G>C

1 paper

NM_001308319.2

p.E682D

c.2046G>T

1 paper

NM_001308319.2

p.K666N

c.1998G>C

1 paper

NM_001308319.2

p.K666N

c.1998G>T

2 papers

NM_001308319.2

p.K666M

c.1997A>T

1 paper

NM_001308319.2

p.S661Y

c.1982C>A

1 paper

NM_001308319.2

p.E655delFs

c.1963_1964delGA

1 paper

NM_001308319.2

p.K652Q

c.1954A>C