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

1–12 of 476 variants

13 papers

NM_015557.3

p.S1539P

c.4615T>C

8 papers

NM_015557.3

p.M1576I

c.4728G>T

8 papers

NM_015557.3

p.M1576I

c.4728G>C

8 papers

NM_015557.3

p.M1576I

c.4728G>A

6 papers

NM_015557.3

p.T157M

c.470C>T

5 papers

NM_015557.3

p.V45M

c.133G>A

5 papers

NM_015557.3

p.S259C

c.776C>G

3 papers

NM_015557.3

p.D119N

c.355G>A

3 papers

NM_015557.3

p.S151L

c.452C>T

3 papers

NM_015557.3

p.R193W

c.577C>T

3 papers

NM_015557.3

p.R667G

c.1999A>G

3 papers

NM_015557.3

p.V680L

c.2038G>T