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

2 papers

NM_015338.6

p.I617delFs

c.1851delT

Surrounding Variants

2 papers

NM_015338.6

p.I617fs

c.1849_1850fs

4 papers

NM_015338.6

p.I617insFs

c.1849_1850insT

1 paper

NM_015338.6

p.I617V

c.1849A>G

1 paper

NM_015338.6

p.I617fs

c.1849_1850fs

1 paper

NM_015338.6

p.I617_K618delins

c.1849_1852delinsT

1 paper

NM_015338.6

p.I617_K618Fs

c.1849_1854delinsTAATFs

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

1 paper

NM_015338.6

p.D616E

c.1848C>G

1 paper

NM_015338.6

p.I617_G626delFs

c.1849_1877del29

1 paper

NM_015338.6

p.I617S

c.1850T>G