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.T736fs

c.2206_2207fs

Surrounding Variants

2 papers

NM_015338.6

p.A735fs

c.2203_2204fs

1 paper

NM_015338.6

p.A735insFs

c.2203_2204insTC

2 papers

NM_015338.6

p.A735fs

c.2203_2204fs

1 paper

NM_015338.6

p.V737fs

c.2209_2210fs

1 paper

NM_015338.6

p.V737G

c.2210T>G

1 paper

NM_015338.6

p.R734fs

c.2200_2201fs

1 paper

NM_015338.6

p.G738fs

c.2212_2213fs

2 papers

NM_015338.6

p.G738*

c.2212G>T

1 paper

NM_015338.6

p.G738fs

c.2212_2213fs

2 papers

NM_015338.6

p.G738V

c.2213G>T

1 paper

NM_015338.6

p.G738delins

c.2213_2214delinsTG

2 papers

NM_015338.6

p.Q733L

c.2198A>T