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.Q910insFs

c.2728_2729insC

Surrounding Variants

1 paper

NM_015338.6

p.K909_Q910insFs

c.2727_2730dup4

2 papers

NM_015338.6

p.Q910fs

c.2728_2729fs

6 papers

NM_015338.6

p.Q910*

c.2728C>T

1 paper

NM_015338.6

p.Q910fs

c.2728_2729fs

1 paper

NM_015338.6

p.K909insFs

c.2726_2727ins4

1 paper

NM_015338.6

p.K909fs

c.2725_2726fs

5 papers

NM_015338.6

p.K909*

c.2725A>T

1 paper

NM_015338.6

p.K912delFs

c.2736delA

1 paper

NM_015338.6

p.K912_P913insTTG

c.2734_2738ins9

3 papers

NM_015338.6

p.K912*

c.2734A>T

1 paper

NM_015338.6

p.V907I

c.2719G>A

1 paper

NM_015338.6

p.V907delFs

c.2719delG