Varaico: Literature-Extracted Genetic Variants

CHD7

1,131 papers

RefSeq Summary

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different ...

Pfam Domains

Chromoaa 800–862UCSCChromo (CHRromatin Organisation MOdifier) domain

Chromoaa 882–935UCSCChromo (CHRromatin Organisation MOdifier) domain

SNF2-rel_domaa 971–1257UCSCSNF2-related domain

Helicase_Caa 1290–1404UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 7

HGNC Previous Symbol

CRG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017780.4

p.G1684Splc

c.5050+2T>G

Surrounding Variants

2 papers

NM_017780.4

p.G1684Splc

c.5050+2T>C

3 papers

NM_017780.4

p.G1684Splc

c.5050+3A>T

6 papers

NM_017780.4

p.G1684Splc

c.5050+1G>A

2 papers

NM_017780.4

p.G1684Splc

c.5050+1G>T

19 papers

NM_017780.4

p.G1684S

c.5050G>A

1 paper

NM_017780.4

p.G1684C

c.5050G>T

1 paper

NM_017780.4

p.H1682delFs

c.5044delC

1 paper

NM_017780.4

p.R1677_A1678Fs

c.5030_5032delinsAAFs

7 papers

NM_017780.4

p.R1677*

c.5029C>T

2 papers

NM_017780.4

p.Q1675*

c.5023C>T

1 paper

NM_017780.4

p.D1673N

c.5017G>A

1 paper

NM_017780.4

p.T1671_D1673delFs

c.5012_5018del7