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.G434_A436delFs

c.1302_1306del5

Surrounding Variants

2 papers

NM_015338.6

p.A433_G434insFs

c.1299_1300insG

1 paper

NM_015338.6

p.G434V

c.1301G>T

1 paper

NM_015338.6

p.V435_A436del2

c.1303_1307del6

1 paper

NM_015338.6

p.V435L

c.1303G>C

1 paper

NM_015338.6

p.A433fs

c.1297_1298fs

1 paper

NM_015338.6

p.V435fs

c.1303_1304fs

9 papers

NM_015338.6

p.Q432*

c.1294C>T

2 papers

NM_015338.6

p.A436P

c.1306G>C

1 paper

NM_015338.6

p.A436S

c.1306G>T

1 paper

NM_015338.6

p.E431_Q432ins2

c.1293_1294ins6

1 paper

NM_015338.6

p.K437*

c.1309A>T

1 paper

NM_015338.6

p.K437fs

c.1309_1310fs