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

1 paper

NM_032221.5

p.A1036E

c.3107C>A

Surrounding Variants

1 paper

NM_032221.5

p.G996G

c.2988G>C

1 paper

NM_032221.5

p.T991P

c.2971A>C

1 paper

NM_032221.5

p.D978N

c.2932G>A

1 paper

NM_032221.5

p.E1070Q

c.3208G>C

1 paper

NM_032221.5

p.P1079S

c.3235C>T

1 paper

NM_032221.5

p.R1084C

c.3250C>T

1 paper

NM_032221.5

p.R1091delFs

c.3273delG

1 paper

NM_032221.5

p.E1096*

c.3286G>T

1 paper

NM_032221.5

p.R1099W

c.3295C>T

1 paper

NM_032221.5

p.G943_V944Splc

c.2829+4A>G

1 paper

NM_032221.5

p.A930T

c.2788G>A

1 paper

NM_032221.5

p.R1135C

c.3403C>T