Varaico: Literature-Extracted Genetic Variants

CHD5

275 papers

RefSeq Summary

This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional function...

Pfam Domains

CHDNTaa 145–200UCSCCHDNT (NUC034) domain

PHDaa 346–387UCSCPHD-finger

PHDaa 418–460UCSCPHD-finger

Chromoaa 592–644UCSCChromo (CHRromatin Organisation MOdifier) domain

SNF2-rel_domaa 703–998UCSCSNF2-related domain

Helicase_Caa 1024–1138UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015557.3

p.A215P

c.643G>C

Surrounding Variants

1 paper

NM_015557.3

p.A215A

c.645G>A

2 papers

NM_015557.3

p.V213A

c.638T>C

1 paper

NM_015557.3

p.A212V

c.635C>T

1 paper

NM_015557.3

p.V217V

c.651A>G

1 paper

NM_015557.3

p.E218delFs

c.652delC

1 paper

NM_015557.3

p.A211G

c.632C>G

1 paper

NM_015557.3

p.A211_A212ins11

c.631_635ins33

1 paper

NM_015557.3

p.A210V

c.629C>T

1 paper

NM_015557.3

p.A209V

c.626C>T

1 paper

NM_015557.3

p.A208A

c.624A>G

1 paper

NM_015557.3

p.S205F

c.614C>T

2 papers

NM_015557.3

p.S204insFs

c.612dupC