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.G643C

c.1927G>T

Surrounding Variants

1 paper

NM_015557.3

p.N636I

c.1907A>T

1 paper

NM_015557.3

p.N636S

c.1907A>G

1 paper

NM_015557.3

p.I629I

c.1887C>T

1 paper

NM_015557.3

p.I626delFs

c.1877delA

1 paper

NM_015557.3

p.E625G

c.1874A>G

1 paper

NM_015557.3

p.T623N

c.1868C>A

1 paper

NM_015557.3

p.Y619Y

c.1857C>T

1 paper

NM_015557.3

p.I612M

c.1836C>G

1 paper

NM_015557.3

p.R645W

c.1933A>T

1 paper

NM_015557.3

p.E646*

c.1936G>T

1 paper

NM_015557.3

p.E646V

c.1937A>T

1 paper

NM_015557.3

p.D607N

c.1819G>A