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

1–12 of 302 variants

3 papers

NM_032221.5

p.H1225Q

c.3675C>G

3 papers

NM_032221.5

p.H1225Q

c.3675C>A

3 papers

NM_032221.5

p.Q1624P

c.4871A>C

3 papers

NM_032221.5

p.S1654F

c.4961C>T

3 papers

NM_032221.5

p.P2551L

c.7652C>T

2 papers

NM_032221.5

p.L61V

c.181C>G

2 papers

NM_032221.5

p.R343H

c.1028G>A

2 papers

NM_032221.5

p.I361V

c.1081A>G

2 papers

NM_032221.5

p.V438_E439Splc

c.1314+3A>G

2 papers

NM_032221.5

p.I515I

c.1545C>T

2 papers

NM_032221.5

p.Y539insFs

c.1615dupT

2 papers

NM_032221.5

p.I735L

c.2203A>C