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.G643R

c.1927G>C

Surrounding Variants

1 paper

NM_015338.6

p.G643R

c.1927G>A

8 papers

NM_015338.6

p.G643insFs

c.1927_1928insA

40 papers

NM_015338.6

p.G643fs

c.1927_1928fs

4 papers

NM_015338.6

p.G643W

c.1927G>T

14 papers

NM_015338.6

p.G643fs

c.1927_1928fs

312 papers

NM_015338.6

p.G645insFs

c.1934dupG

NM_001363734.1

p.G643insFs

c.1934_1935insG

1 paper

NM_015338.6

p.G643insFs

c.1927_1928ins4

5 papers

NM_015338.6

p.G645insFs

c.1933_1934dupGG

1 paper

NM_015338.6

p.G643ins1

c.1927_1928insGGG

1 paper

NM_015338.6

p.G643insFs

c.1927_1928ins10

42 papers

NM_015338.6

p.G645delFs

c.1934delG

9 papers

NM_015338.6

p.G645delFs

c.1933_1934delGG