Varaico: Literature-Extracted Genetic Variants

CHD6

199 papers

RefSeq Summary

This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes r...

Pfam Domains

Chromoaa 292–354UCSCChromo (CHRromatin Organisation MOdifier) domain

Chromoaa 375–429UCSCChromo (CHRromatin Organisation MOdifier) domain

SNF2-rel_domaa 464–750UCSCSNF2-related domain

Helicase_Caa 783–897UCSCHelicase conserved C-terminal domain

HTH_CHD6-9aa 1428–1532UCSCChromodomain-helicase-DNA-binding protein 6-9, tri-helical

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 6

HGNC Alias Symbols

KIAA1335; FLJ22369; dJ620E11.1; RIGB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032221.5

p.L2492I

c.7474C>A

Surrounding Variants

1 paper

NM_032221.5

p.P2488S

c.7462C>T

1 paper

NM_032221.5

p.G2501V

c.7502G>T

1 paper

NM_032221.5

p.T2504M

c.7511C>T

1 paper

NM_032221.5

p.E2510K

c.7528G>A

1 paper

NM_032221.5

p.N2470S

c.7409A>G

1 paper

NM_032221.5

p.M2469T

c.7406T>C

1 paper

NM_032221.5

p.M2469L

c.7405A>T

1 paper

NM_032221.5

p.M2469L

c.7405A>C

1 paper

NM_032221.5

p.R2447Q

c.7340G>A

1 paper

NM_032221.5

p.R2445W

c.7333C>T

1 paper

NM_032221.5

p.A2543E

c.7628C>A

1 paper

NM_032221.5

p.T2545I

c.7634C>T