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.G659V

c.1976G>T

Surrounding Variants

2 papers

NM_015338.6

p.G659D

c.1976G>A

2 papers

NM_015338.6

p.G659fs

c.1975_1976fs

1 paper

NM_015338.6

p.G659fs

c.1975_1976fs

1 paper

NM_015338.6

p.G660del1

c.1978_1979delGGC

2 papers

NM_015338.6

p.G659delFs

c.1975_1976delGG

2 papers

NM_015338.6

p.G659_G660del2

c.1975_1979del6

1 paper

NM_015338.6

p.G660fs

c.1978_1979fs

1 paper

NM_015338.6

p.G660fs

c.1978_1979fs

1 paper

NM_015338.6

p.G658fs

c.1972_1973fs

10 papers

NM_015338.6

p.G658*

c.1972G>T

1 paper

NM_015338.6

p.G658_G660delFs

c.1974_1978del5

4 papers

NM_015338.6

p.R661*

c.1981A>T