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.Q708fs

c.2122_2123fs

Surrounding Variants

5 papers

NM_015338.6

p.Q708fs

c.2122_2123fs

17 papers

NM_015338.6

p.Q708*

c.2122C>T

1 paper

NM_015338.6

p.Q708P

c.2123A>C

2 papers

NM_015338.6

p.A709delFs

c.2125delG

1 paper

NM_015338.6

p.Q708_A709insFs

c.2124_2125insGC

1 paper

NM_015338.6

p.Q708insFs

c.2122_2123insC

1 paper

NM_015338.6

p.T707P

c.2119A>C

2 papers

NM_015338.6

p.T707fs

c.2119_2120fs

1 paper

NM_015338.6

p.A709insFs

c.2127dupC

1 paper

NM_015338.6

p.A709fs

c.2125_2126fs

2 papers

NM_015338.6

p.A709delFs

c.2126delC

1 paper

NM_015338.6

p.A709fs

c.2125_2126fs