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.P1626S

c.4876C>T

Surrounding Variants

3 papers

NM_032221.5

p.Q1624P

c.4871A>C

1 paper

NM_032221.5

p.G1627fs

c.4879_4880fs

1 paper

NM_032221.5

p.T1623I

c.4868C>T

1 paper

NM_032221.5

p.L1606P

c.4817T>C

1 paper

NM_032221.5

p.I1600M

c.4800C>G

3 papers

NM_032221.5

p.S1654F

c.4961C>T

1 paper

NM_032221.5

p.R1595H

c.4784G>A

1 paper

NM_032221.5

p.E1658E

c.4974A>G

1 paper

NM_032221.5

p.R1664K

c.4991G>A

1 paper

NM_032221.5

p.V1665L

c.4993G>T

1 paper

NM_032221.5

p.V1665L

c.4993G>C

1 paper

NM_032221.5

p.R1582Q

c.4745G>A