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.C594delins

c.1780_1781delinsCAGGTGGCACAGGTTCCACTCCC

Surrounding Variants

1 paper

NM_015338.6

p.C594G

c.1780T>G

5 papers

NM_015338.6

p.C594fs

c.1780_1781fs

2 papers

NM_015338.6

p.C594fs

c.1780_1781fs

1 paper

NM_015338.6

p.I593M

c.1779A>G

2 papers

NM_015338.6

p.R596insFs

c.1786dupC

1 paper

NM_015338.6

p.R596delFs

c.1786delC

22 papers

NM_015338.6

p.C594*

c.1782C>A

4 papers

NM_015338.6

p.I593insFs

c.1779dupA

1 paper

NM_015338.6

p.I593delFs

c.1779delA

2 papers

NM_015338.6

p.I593fs

c.1777_1778fs

1 paper

NM_015338.6

p.I593insFs

c.1778dupT

4 papers

NM_015338.6

p.I593V

c.1777A>G