Varaico: Literature-Extracted Genetic Variants

ASXL1

1,980 papers

RefSeq Summary

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein ...

Pfam Domains

HARE-HTHaa 11–83UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 236–361UCSCAsx homology domain

PHD_3aa 1483–1539UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 1

HGNC Alias Symbol

KIAA0978

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015338.6

p.L950_D951insFs

c.2850_2853dup4

Surrounding Variants

1 paper

NM_015338.6

p.L950fs

c.2848_2849fs

1 paper

NM_015338.6

p.G949G

c.2847T>G

1 paper

NM_015338.6

p.L950delFs

c.2848delC

1 paper

NM_015338.6

p.G949R

c.2845G>C

2 papers

NM_015338.6

p.D951fs

c.2851_2852fs

1 paper

NM_015338.6

p.G949_L950insGTC

c.2845_2849ins9

1 paper

NM_015338.6

p.G949delFs

c.2846_2847delGT

1 paper

NM_015338.6

p.D951insFs

c.2852_2853ins7

1 paper

NM_015338.6

p.P952insFs

c.2854dupC

1 paper

NM_015338.6

p.P952fs

c.2854_2855fs

1 paper

NM_015338.6

p.P952delFs

c.2855_2856delCT

1 paper

NM_015338.6

p.L953_W960delFs

c.2859_2878del20