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.T173A

c.517A>G

Surrounding Variants

1 paper

NM_032221.5

p.R170S

c.510G>T

1 paper

NM_032221.5

p.R170S

c.510G>C

1 paper

NM_032221.5

p.R182K

c.545G>A

1 paper

NM_032221.5

p.E159K

c.475G>A

1 paper

NM_032221.5

p.D149V

c.446A>T

1 paper

NM_032221.5

p.P136L

c.407C>T

1 paper

NM_032221.5

p.K112T

c.335A>C

1 paper

NM_032221.5

p.E105Q

c.313G>C

1 paper

NM_032221.5

p.Q104E

c.310C>G

1 paper

NM_032221.5

p.P101R

c.302C>G

1 paper

NM_032221.5

p.T90S

c.269C>G

1 paper

NM_032221.5

p.T90S

c.268A>T