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

4 papers

NM_015338.6

p.I985delFs

c.2955delC

Surrounding Variants

1 paper

NM_015338.6

p.I985_N986insFs

c.2955_2956insGC

2 papers

NM_015338.6

p.I985fs

c.2953_2954fs

1 paper

NM_015338.6

p.I985V

c.2953A>G

1 paper

NM_015338.6

p.I985fs

c.2953_2954fs

2 papers

NM_015338.6

p.N986fs

c.2956_2957fs

3 papers

NM_015338.6

p.N986fs

c.2956_2957fs

36 papers

NM_015338.6

p.N986S

c.2957A>G

1 paper

NM_015338.6

p.N986I

c.2957A>T

1 paper

NM_015338.6

p.I985_N986delFs

c.2954_2957del4

1 paper

NM_015338.6

p.K984*

c.2950A>T

2 papers

NM_015338.6

p.G987delFs

c.2960delG

3 papers

NM_015338.6

p.G987R

c.2959G>A