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.T271M

c.812C>T

Surrounding Variants

1 paper

NM_015557.3

p.A272V

c.815C>T

1 paper

NM_015557.3

p.K267N

c.801A>T

1 paper

NM_015557.3

p.K265fs

c.793_794fs

5 papers

NM_015557.3

p.S259C

c.776C>G

1 paper

NM_015557.3

p.G258A

c.773G>C

1 paper

NM_015557.3

p.K257R

c.770A>G

1 paper

NM_015557.3

p.S290_S291Splc

c.870+1G>A

1 paper

NM_015557.3

p.S289_S290del2

c.865_869del6

1 paper

NM_015557.3

p.G251A

c.752G>C

1 paper

NM_015557.3

p.S290_S291Splc

c.870+321C>T

1 paper

NM_015557.3

p.E292V

c.875A>T

1 paper

NM_015557.3

p.D294E

c.882T>G