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.A1594V

c.4781C>T

Surrounding Variants

1 paper

NM_015557.3

p.H1608R

c.4823A>G

1 paper

NM_015557.3

p.E1609K

c.4825G>A

1 paper

NM_015557.3

p.E1620*

c.4858G>T

2 papers

NM_015557.3

p.R1621W

c.4861C>T

2 papers

NM_015557.3

p.R1621Q

c.4862G>A

1 paper

NM_015557.3

p.T1625T

c.4875G>A

1 paper

NM_015557.3

p.P1629L

c.4886C>T

2 papers

NM_015557.3

p.S1631F

c.4892C>T

1 paper

NM_015557.3

p.P1632L

c.4895C>T

1 paper

NM_015557.3

p.E1633A

c.4898A>C

1 paper

NM_015557.3

p.A1583P

c.4747G>C

1 paper

NM_015557.3

p.G1582R

c.4744G>C