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

14 papers

NM_015338.6

p.Q976*

c.2926C>T

Surrounding Variants

1 paper

NM_015338.6

p.Q976insFs

c.2926_2927insTG

1 paper

NM_015338.6

p.Q976fs

c.2926_2927fs

1 paper

NM_015338.6

p.Q976_L983delFs

c.2927_2949del23

4 papers

NM_015338.6

p.C975*

c.2925T>A

1 paper

NM_015338.6

p.Q977fs

c.2929_2930fs

8 papers

NM_015338.6

p.Q977*

c.2929C>T

1 paper

NM_015338.6

p.Q977delFs

c.2930delA

1 paper

NM_015338.6

p.Q977fs

c.2929_2930fs

2 papers

NM_015338.6

p.C975fs

c.2923_2924fs

1 paper

NM_015338.6

p.Q977R

c.2930A>G

8 papers

NM_015338.6

p.Y974*

c.2922C>A

8 papers

NM_015338.6

p.Y974*

c.2922C>G