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.T1018fs

c.3052_3053fs

Surrounding Variants

2 papers

NM_015338.6

p.T1018delFs

c.3052delA

2 papers

NM_015338.6

p.D1017A

c.3050A>C

1 paper

NM_015338.6

p.R1019delFs

c.3055_3056delAG

1 paper

NM_015338.6

p.R1019del1

c.3055_3056delAGA

2 papers

NM_015338.6

p.R1019*

c.3055A>T

3 papers

NM_015338.6

p.T1018delFs

c.3052_3053delAC

1 paper

NM_015338.6

p.A1016V

c.3047C>T

2 papers

NM_015338.6

p.A1016T

c.3046G>A

1 paper

NM_015338.6

p.A1016fs

c.3046_3047fs

1 paper

NM_015338.6

p.A1021fs

c.3061_3062fs

2 papers

NM_015338.6

p.E1015*

c.3043G>T

1 paper

NM_015338.6

p.A1021delFs

c.3062delC