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

4 papers

NM_015338.6

p.A627V

c.1880C>T

Surrounding Variants

1 paper

NM_015338.6

p.A627insFs

c.1880_1881insG

1 paper

NM_015338.6

p.R628_G629insFs

c.1882_1885dup4

3 papers

NM_015338.6

p.R628_G629delFs

c.1884_1885delAG

2 papers

NM_015338.6

p.A627A

c.1881G>A

4 papers

NM_015338.6

p.A627fs

c.1879_1880fs

1 paper

NM_015338.6

p.R628_H631delFs

c.1882_1892del11

6 papers

NM_015338.6

p.A627fs

c.1879_1880fs

2 papers

NM_015338.6

p.R628fs

c.1882_1883fs

1 paper

NM_015338.6

p.R628*

c.1882A>T

1 paper

NM_015338.6

p.R628fs

c.1882_1883fs

1 paper

NM_015338.6

p.A627_R628del2

c.1879_1883del6

1 paper

NM_015338.6

p.R628T

c.1883G>C