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

2 papers

NM_032221.5

p.I735L

c.2203A>C

Surrounding Variants

1 paper

NM_032221.5

p.N730T

c.2189A>C

1 paper

NM_032221.5

p.A726T

c.2176G>A

1 paper

NM_032221.5

p.N746S

c.2237A>G

1 paper

NM_032221.5

p.K717N

c.2151G>T

1 paper

NM_032221.5

p.K717N

c.2151G>C

1 paper

NM_032221.5

p.Y711N

c.2131T>A

1 paper

NM_032221.5

p.E700Q

c.2098G>C

1 paper

NM_032221.5

p.K689E

c.2065A>G

1 paper

NM_032221.5

p.M679V

c.2035A>G

1 paper

NM_032221.5

p.L759L

c.2277A>T

1 paper

NM_032221.5

p.S767N

c.2300G>A

1 paper

NM_032221.5

p.Q774H

c.2322G>T