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.A1021fs

c.3061_3062fs

Surrounding Variants

1 paper

NM_015338.6

p.A1021delFs

c.3062delC

1 paper

NM_015338.6

p.A1022fs

c.3064_3065fs

1 paper

NM_015338.6

p.A1022G

c.3065C>G

1 paper

NM_015338.6

p.A1022A

c.3066A>G

2 papers

NM_015338.6

p.R1019*

c.3055A>T

1 paper

NM_015338.6

p.R1019delFs

c.3055_3056delAG

1 paper

NM_015338.6

p.R1019del1

c.3055_3056delAGA

1 paper

NM_015338.6

p.T1024fs

c.3070_3071fs

1 paper

NM_015338.6

p.T1024_K1025insG

c.3070_3074ins3

1 paper

NM_015338.6

p.T1018fs

c.3052_3053fs

1 paper

NM_015338.6

p.T1024insFs

c.3072dupA

2 papers

NM_015338.6

p.T1018delFs

c.3052delA