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.H373R

c.1118A>G

Surrounding Variants

1 paper

NM_001308319.2

p.H377L

c.1130A>T

1 paper

NM_001308319.2

p.G382A

c.1145G>C

1 paper

NM_001308319.2

p.E388D

c.1164G>C

1 paper

NM_001308319.2

p.E388D

c.1164G>T

1 paper

NM_001308319.2

p.H392N

c.1174C>A

1 paper

NM_001308319.2

p.E407K

c.1219G>A

1 paper

NM_001308319.2

p.D408N

c.1222G>A

1 paper

NM_001308319.2

p.N335Y

c.1003A>T

1 paper

NM_001308319.2

p.T422P

c.1264A>C

1 paper

NM_001308319.2

p.D426H

c.1276G>C

1 paper

NM_001308319.2

p.Q319K

c.955C>A

1 paper

NM_001308319.2

p.N299H

c.895A>C