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.G662fs

c.1984_1985fs

Surrounding Variants

1 paper

NM_015338.6

p.G662fs

c.1984_1985fs

1 paper

NM_015338.6

p.G662_S663insG

c.1984_1988ins3

1 paper

NM_015338.6

p.G662insFs

c.1984_1985ins4

1 paper

NM_015338.6

p.G662D

c.1985G>A

1 paper

NM_015338.6

p.G662_S664delFs

c.1986_1990del5

1 paper

NM_015338.6

p.S663_S665delFs

c.1987_1994del8

1 paper

NM_015338.6

p.G662_S665Fs

c.1986_1994delinsGTTTFs

2 papers

NM_015338.6

p.S663_D667delFs

c.1987_2000del14

2 papers

NM_015338.6

p.R661_S664Fs

c.1982_1990delinsCTCTFs

4 papers

NM_015338.6

p.S663fs

c.1987_1988fs

1 paper

NM_015338.6

p.S663G

c.1987A>G

4 papers

NM_015338.6

p.R661*

c.1981A>T