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.A654insFs

c.1962dupC

Surrounding Variants

2 papers

NM_015338.6

p.A654fs

c.1960_1961fs

1 paper

NM_015338.6

p.A654fs

c.1960_1961fs

1 paper

NM_015338.6

p.T655insFs

c.1963dupA

1 paper

NM_015338.6

p.T655_G659delFs

c.1963_1976del14

2 papers

NM_015338.6

p.T655fs

c.1963_1964fs

1 paper

NM_015338.6

p.T655P

c.1963A>C

1 paper

NM_015338.6

p.T655A

c.1963A>G

2 papers

NM_015338.6

p.T655fs

c.1963_1964fs

5 papers

NM_015338.6

p.G653R

c.1957G>A

4 papers

NM_015338.6

p.G653R

c.1957G>C

1 paper

NM_015338.6

p.G653fs

c.1957_1958fs

2 papers

NM_015338.6

p.G653fs

c.1957_1958fs