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.R65W

c.193C>T

Surrounding Variants

1 paper

NM_015557.3

p.N59I

c.176A>T

1 paper

NM_015557.3

p.K52N

c.156A>T

1 paper

NM_015557.3

p.K52N

c.156A>C

1 paper

NM_015557.3

p.V45_S46delFs

c.135_136delTC

5 papers

NM_015557.3

p.V45M

c.133G>A

1 paper

NM_015557.3

p.P44L

c.131C>T

2 papers

NM_015557.3

p.E43Q

c.127G>C

1 paper

NM_015557.3

p.F40fs

c.118_119fs

1 paper

NM_015557.3

p.F40delFs

c.119delA

1 paper

NM_015557.3

p.A35G

c.104C>G

1 paper

NM_015557.3

p.G70R

c.208G>C

1 paper

NM_015557.3

p.G70R

c.208G>A