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.G666C

c.1996G>T

Surrounding Variants

1 paper

NM_015338.6

p.G666S

c.1996G>A

1 paper

NM_015338.6

p.G666_D667delFs

c.1998_1999delTG

1 paper

NM_015338.6

p.G666fs

c.1996_1997fs

1 paper

NM_015338.6

p.S665N

c.1994G>A

1 paper

NM_015338.6

p.S665insFs

c.1994_1995insT

1 paper

NM_015338.6

p.S665delFs

c.1994delG

1 paper

NM_015338.6

p.S664_S665Fs

c.1991_1994delinsATFs

1 paper

NM_015338.6

p.S664fs

c.1990_1991fs

1 paper

NM_015338.6

p.G669_A671insFs

c.2005_2011dup7

4 papers

NM_015338.6

p.S663fs

c.1987_1988fs

1 paper

NM_015338.6

p.S663G

c.1987A>G

2 papers

NM_015338.6

p.S663fs

c.1987_1988fs