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.L739I

c.2215C>A

Surrounding Variants

1 paper

NM_015338.6

p.L739fs

c.2215_2216fs

3 papers

NM_015338.6

p.L739delFs

c.2216delT

1 paper

NM_015338.6

p.L739fs

c.2215_2216fs

2 papers

NM_015338.6

p.T740delFs

c.2218delA

2 papers

NM_015338.6

p.G738V

c.2213G>T

1 paper

NM_015338.6

p.G738delins

c.2213_2214delinsTG

1 paper

NM_015338.6

p.T740insFs

c.2219_2220ins4

1 paper

NM_015338.6

p.T740fs

c.2218_2219fs

1 paper

NM_015338.6

p.T740fs

c.2218_2219fs

1 paper

NM_015338.6

p.G738fs

c.2212_2213fs

2 papers

NM_015338.6

p.G738*

c.2212G>T

1 paper

NM_015338.6

p.G738fs

c.2212_2213fs