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

6 papers

NM_015338.6

p.E657*

c.1969G>T

Surrounding Variants

1 paper

NM_015338.6

p.E657K

c.1969G>A

5 papers

NM_015338.6

p.E657fs

c.1969_1970fs

1 paper

NM_015338.6

p.E657insFs

c.1971dupG

1 paper

NM_015338.6

p.E657insFs

c.1969dupG

1 paper

NM_015338.6

p.D656N

c.1966G>A

2 papers

NM_015338.6

p.D656insFs

c.1967dupA

1 paper

NM_015338.6

p.D656fs

c.1966_1967fs

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

1 paper

NM_015338.6

p.T655T

c.1965C>T

2 papers

NM_015338.6

p.G659delFs

c.1975_1976delGG