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.G2631C

c.7891G>T

Surrounding Variants

1 paper

NM_032221.5

p.P2630A

c.7888C>G

1 paper

NM_032221.5

p.S2629S

c.7887C>T

1 paper

NM_032221.5

p.S2629F

c.7886C>T

1 paper

NM_032221.5

p.I2614I

c.7842C>T

1 paper

NM_032221.5

p.L2613P

c.7838T>C

1 paper

NM_032221.5

p.K2656R

c.7967A>G

1 paper

NM_032221.5

p.G2662E

c.7985G>A

1 paper

NM_032221.5

p.L2583S

c.7748T>C

1 paper

NM_032221.5

p.S2689N

c.8066G>A

1 paper

NM_032221.5

p.D2571N

c.7711G>A

1 paper

NM_032221.5

p.A2694T

c.8080G>A

2 papers

NM_032221.5

p.E2697fs

c.8089_8090fs