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

2 papers

NM_015338.6

p.T655fs

c.1963_1964fs

Surrounding Variants

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

1 paper

NM_015338.6

p.T655insFs

c.1963dupA

1 paper

NM_015338.6

p.T655I

c.1964C>T

1 paper

NM_015338.6

p.T655_G659delFs

c.1963_1976del14

1 paper

NM_015338.6

p.T655T

c.1965C>T

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.A654insFs

c.1962dupC

2 papers

NM_015338.6

p.A654fs

c.1960_1961fs

1 paper

NM_015338.6

p.D656fs

c.1966_1967fs