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

3 papers

NM_015557.3

p.R193W

c.577C>T

Surrounding Variants

2 papers

NM_015557.3

p.R193Q

c.578G>A

1 paper

NM_015557.3

p.W192*

c.576G>A

1 paper

NM_015557.3

p.W192*

c.575G>A

1 paper

NM_015557.3

p.E194D

c.582G>T

1 paper

NM_015557.3

p.E194D

c.582G>C

1 paper

NM_015557.3

p.A190A

c.570C>T

1 paper

NM_015557.3

p.F201L

c.601T>C

1 paper

NM_015557.3

p.F201L

c.603C>G

1 paper

NM_015557.3

p.F201L

c.603C>A

2 papers

NM_015557.3

p.S204insFs

c.612dupC

2 papers

NM_015557.3

p.S205fs

c.613_614fs

1 paper

NM_015557.3

p.S205F

c.614C>T