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.N1744T

c.5231A>C

Surrounding Variants

2 papers

NM_032221.5

p.D1742H

c.5224G>C

1 paper

NM_032221.5

p.S1740R

c.5218A>C

1 paper

NM_032221.5

p.S1718G

c.5152A>G

1 paper

NM_032221.5

p.L1699_K1711del0

c.5095_5133del39

1 paper

NM_032221.5

p.S1783P

c.5347T>C

1 paper

NM_032221.5

p.E1789K

c.5365G>A

1 paper

NM_032221.5

p.D1688Y

c.5062G>T

1 paper

NM_032221.5

p.N1801S

c.5402A>G

1 paper

NM_032221.5

p.L1805V

c.5413C>G

1 paper

NM_032221.5

p.K1808R

c.5423A>G

1 paper

NM_032221.5

p.S1673T

c.5018G>C

1 paper

NM_032221.5

p.V1665L

c.4993G>T