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.P1547S

c.4639C>T

Surrounding Variants

1 paper

NM_015557.3

p.P1547L

c.4640C>T

1 paper

NM_015557.3

p.D1546D

c.4638C>T

1 paper

NM_015557.3

p.S1545L

c.4634C>T

1 paper

NM_015557.3

p.E1541E

c.4623G>A

1 paper

NM_015557.3

p.A1553T

c.4657G>A

13 papers

NM_015557.3

p.S1539P

c.4615T>C

1 paper

NM_015557.3

p.P1531L

c.4592C>T

1 paper

NM_015557.3

p.T1526S

c.4577C>G

1 paper

NM_015557.3

p.D1567Splc

c.4699+3C>T

1 paper

NM_015557.3

p.T1526S

c.4576A>T

1 paper

NM_015557.3

p.S1525G

c.4573A>G

1 paper

NM_015557.3

p.Y1524*

c.4572C>G