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.M138delFs

c.412_413delAT

Surrounding Variants

1 paper

NM_015557.3

p.L137V

c.409C>G

1 paper

NM_015557.3

p.G135_Q136del2

c.403_407del6

1 paper

NM_015557.3

p.E140D

c.420G>T

1 paper

NM_015557.3

p.Q136fs

c.406_407fs

1 paper

NM_015557.3

p.E140D

c.420G>C

1 paper

NM_015557.3

p.G135delFs

c.405delC

1 paper

NM_015557.3

p.G142S

c.424G>A

1 paper

NM_015557.3

p.G142A

c.425G>C

1 paper

NM_015557.3

p.L143L

c.429G>C

3 papers

NM_015557.3

p.S151L

c.452C>T

6 papers

NM_015557.3

p.T157M

c.470C>T

1 paper

NM_015557.3

p.K162N

c.486G>T