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.A111ins1

c.331_332insGGG

Surrounding Variants

1 paper

NM_015557.3

p.E108V

c.323A>T

3 papers

NM_015557.3

p.D119N

c.355G>A

2 papers

NM_015557.3

p.K102R

c.305A>G

1 paper

NM_015557.3

p.K102*

c.304A>T

1 paper

NM_015557.3

p.D121_D122ins1

c.363_364insACA

1 paper

NM_015557.3

p.K101E

c.301A>G

1 paper

NM_015557.3

p.E120_D122delFs

c.359_365del7

1 paper

NM_015557.3

p.K97delFs

c.289_290delTT

1 paper

NM_015557.3

p.D124ins1

c.371_372insACA

1 paper

NM_015557.3

p.K129M

c.386A>T

1 paper

NM_015557.3

p.E87K

c.259G>A

1 paper

NM_015557.3

p.S86S

c.258G>A