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

3 papers

NM_032221.5

p.H1225Q

c.3675C>G

Surrounding Variants

3 papers

NM_032221.5

p.H1225Q

c.3675C>A

1 paper

NM_032221.5

p.K1228insFs

c.3682_3683insA

1 paper

NM_032221.5

p.K1228Splc

c.3683+23C>A

1 paper

NM_032221.5

p.H1214D

c.3640C>G

1 paper

NM_032221.5

p.P1209P

c.3627C>T

1 paper

NM_032221.5

p.A1205G

c.3614C>G

1 paper

NM_032221.5

p.L1198P

c.3593T>C

1 paper

NM_032221.5

p.N1172S

c.3515A>G

1 paper

NM_032221.5

p.Q1166R

c.3497A>G

1 paper

NM_032221.5

p.Q1166*

c.3496C>T

1 paper

NM_032221.5

p.L1137F

c.3409C>T

1 paper

NM_032221.5

p.R1135C

c.3403C>T