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.V907I

c.2719G>A

Surrounding Variants

1 paper

NM_015338.6

p.V907delFs

c.2719delG

2 papers

NM_015338.6

p.E906*

c.2716G>T

1 paper

NM_015338.6

p.D905insFs

c.2714_2715ins4

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.D905fs

c.2713_2714fs

1 paper

NM_015338.6

p.K909_Q910insFs

c.2727_2730dup4

1 paper

NM_015338.6

p.Q910insFs

c.2728_2729insC

1 paper

NM_015338.6

p.N904fs

c.2710_2711fs

2 papers

NM_015338.6

p.Q910fs

c.2728_2729fs

6 papers

NM_015338.6

p.Q910*

c.2728C>T