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.V438_E439Splc

c.1314+3A>G

Surrounding Variants

1 paper

NM_032221.5

p.F426L

c.1278T>G

1 paper

NM_032221.5

p.F426L

c.1278T>A

1 paper

NM_032221.5

p.F426L

c.1276T>C

1 paper

NM_032221.5

p.P420T

c.1258C>A

1 paper

NM_032221.5

p.E415Q

c.1243G>C

1 paper

NM_032221.5

p.K401T

c.1202A>C

1 paper

NM_032221.5

p.G392V

c.1175G>T

1 paper

NM_032221.5

p.R379H

c.1136G>A

1 paper

NM_032221.5

p.D378Y

c.1132G>T

1 paper

NM_032221.5

p.E450Q

c.1348G>C

1 paper

NM_032221.5

p.E454*

c.1360G>T

1 paper

NM_032221.5

p.W471L

c.1412G>T