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

12 papers

NM_015338.6

p.R965_G966del1

c.2894_2896delGAG

Surrounding Variants

60 papers

NM_015338.6

p.R965*

c.2893C>T

2 papers

NM_015338.6

p.R965_G966del2

c.2893_2897del6

1 paper

NM_015338.6

p.G966delFs

c.2897delG

1 paper

NM_015338.6

p.G966_G967delFs

c.2896_2899del4

1 paper

NM_015338.6

p.S964F

c.2891C>T

1 paper

NM_015338.6

p.G966fs

c.2896_2897fs

1 paper

NM_015338.6

p.G966*

c.2896G>T

1 paper

NM_015338.6

p.G966fs

c.2896_2897fs

1 paper

NM_015338.6

p.G967_S968delFs

c.2900_2903del4

10 papers

NM_015338.6

p.G967del1

c.2899_2900delGGC

1 paper

NM_015338.6

p.P963insFs

c.2889dupA

1 paper

NM_015338.6

p.P963L

c.2888C>T