Varaico: Literature-Extracted Genetic Variants

CHD8

420 papers

RefSeq Summary

This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein al...

Pfam Domains

Chromoaa 642–704UCSCChromo (CHRromatin Organisation MOdifier) domain

Chromoaa 724–778UCSCChromo (CHRromatin Organisation MOdifier) domain

SNF2-rel_domaa 814–1100UCSCSNF2-related domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 8

HGNC Previous Symbol

HELSNF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001170629.2

p.E2072D

c.6216G>T

Surrounding Variants

1 paper

NM_001170629.2

p.E2072D

c.6216G>C

1 paper

NM_001170629.2

p.L2073M

c.6217C>A

1 paper

NM_001170629.2

p.S2069S

c.6207G>A

1 paper

NM_001170629.2

p.S2069*

c.6206C>A

1 paper

NM_001170629.2

p.L2078L

c.6232C>T

1 paper

NM_001170629.2

p.D2067N

c.6199G>A

1 paper

NM_001170629.2

p.E2064Q

c.6190G>C

2 papers

NM_001170629.2

p.S2084_S2085del1

c.6252_6254delGAA

1 paper

NM_001170629.2

p.S2084_S2085del2

c.6250_6254del6

1 paper

NM_001170629.2

p.S2092Fs

c.6275delinsATFs

2 papers

NM_001170629.2

p.S2092insFs

c.6274dupA

1 paper

NM_001170629.2

p.S2094G

c.6280A>G