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.I361V

c.1081A>G

Surrounding Variants

1 paper

NM_032221.5

p.A345T

c.1033G>A

1 paper

NM_032221.5

p.I344I

c.1032C>T

1 paper

NM_032221.5

p.I344M

c.1032C>G

2 papers

NM_032221.5

p.R343H

c.1028G>A

1 paper

NM_032221.5

p.T334I

c.1001C>T

1 paper

NM_032221.5

p.Y319C

c.956A>G

1 paper

NM_032221.5

p.D314N

c.940G>A

1 paper

NM_032221.5

p.P311T

c.931C>A

1 paper

NM_032221.5

p.D290G

c.869A>G

1 paper

NM_032221.5

p.D378Y

c.1132G>T

1 paper

NM_032221.5

p.R379H

c.1136G>A

1 paper

NM_032221.5

p.G392V

c.1175G>T