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.C315_S316delFs

c.945_948del4

Surrounding Variants

1 paper

NM_015557.3

p.C315S

c.944G>C

1 paper

NM_015557.3

p.C315S

c.943T>A

1 paper

NM_015557.3

p.G320C

c.958G>T

1 paper

NM_015557.3

p.E314*

c.940G>T

1 paper

NM_015557.3

p.S308C

c.922A>T

1 paper

NM_015557.3

p.S305N

c.914G>A

2 papers

NM_015557.3

p.A304T

c.910G>A

1 paper

NM_015557.3

p.R331_I332insGGG

c.991_995ins9

1 paper

NM_015557.3

p.F301F

c.903C>T

1 paper

NM_015557.3

p.E295*

c.883G>T

1 paper

NM_015557.3

p.D294E

c.882T>G

1 paper

NM_015557.3

p.D294E

c.882T>A