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.A615fs

c.1843_1844fs

Surrounding Variants

2 papers

NM_015338.6

p.A615T

c.1843G>A

1 paper

NM_015338.6

p.D616_Q623delFs

c.1847_1869del23

1 paper

NM_015338.6

p.A615delFs

c.1843_1844delGC

1 paper

NM_015338.6

p.A615_A627delFs

c.1844_1881del38

2 papers

NM_015338.6

p.L614F

c.1840C>T

1 paper

NM_015338.6

p.L614fs

c.1840_1841fs

1 paper

NM_015338.6

p.L614_K618delins

c.1840_1852delinsT

1 paper

NM_015338.6

p.L614_G626delFs

c.1841_1878del38

2 papers

NM_015338.6

p.D616N

c.1846G>A

1 paper

NM_015338.6

p.D616E

c.1848C>A

1 paper

NM_015338.6

p.I617_K618insFs

c.1850_1853dup4

1 paper

NM_015338.6

p.D616_I617insFs

c.1848_1849ins4