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.G541delFs

c.1622delC

Surrounding Variants

2 papers

NM_032221.5

p.Y539insFs

c.1615dupT

1 paper

NM_032221.5

p.V538M

c.1612G>A

1 paper

NM_032221.5

p.Q547P

c.1640A>C

1 paper

NM_032221.5

p.Y552C

c.1655A>G

2 papers

NM_032221.5

p.I515I

c.1545C>T

1 paper

NM_032221.5

p.E502K

c.1504G>A

1 paper

NM_032221.5

p.T493A

c.1477A>G

1 paper

NM_032221.5

p.K492R

c.1475A>G

1 paper

NM_032221.5

p.K492Q

c.1474A>C

1 paper

NM_032221.5

p.E487D

c.1461G>T

1 paper

NM_032221.5

p.E487D

c.1461G>C

1 paper

NM_032221.5

p.N481fs

c.1441_1442fs