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.R667G

c.1999A>G

Surrounding Variants

1 paper

NM_015557.3

p.K670fs

c.2008_2009fs

1 paper

NM_015557.3

p.G663delFs

c.1989delG

1 paper

NM_015557.3

p.G663G

c.1989C>T

1 paper

NM_015557.3

p.P674L

c.2021C>T

1 paper

NM_015557.3

p.P675L

c.2024C>T

3 papers

NM_015557.3

p.V680L

c.2038G>T

3 papers

NM_015557.3

p.V680L

c.2038G>C

1 paper

NM_015557.3

p.L649_T653delFs

c.1946_1958del13

1 paper

NM_015557.3

p.G650_D652del0

c.1948_1956del9

1 paper

NM_015557.3

p.P678_D681del4

c.2032_2042del12

1 paper

NM_015557.3

p.G650R

c.1948G>A

1 paper

NM_015557.3

p.E646V

c.1937A>T