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.D943fs

c.2827_2828fs

Surrounding Variants

1 paper

NM_015338.6

p.D943N

c.2827G>A

1 paper

NM_015338.6

p.D943fs

c.2827_2828fs

1 paper

NM_015338.6

p.L944_L953delFs

c.2831_2859del29

1 paper

NM_015338.6

p.G942_D943insGTG

c.2824_2828ins9

1 paper

NM_015338.6

p.L944fs

c.2830_2831fs

1 paper

NM_015338.6

p.L944_T945insCAC

c.2830_2834ins9

2 papers

NM_015338.6

p.L944*

c.2831T>A

1 paper

NM_015338.6

p.D943delFs

c.2827delG

3 papers

NM_015338.6

p.P941fs

c.2821_2822fs

1 paper

NM_015338.6

p.P941delFs

c.2822_2823delCT

1 paper

NM_015338.6

p.T945I

c.2834C>T

1 paper

NM_015338.6

p.T945delFs

c.2835delA