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

3 papers

NM_015338.6

p.W930*

c.2789G>A

Surrounding Variants

2 papers

NM_015338.6

p.W930*

c.2790G>A

1 paper

NM_015338.6

p.W930_E931insACG

c.2788_2792ins9

4 papers

NM_015338.6

p.E931*

c.2791G>T

1 paper

NM_015338.6

p.E929delFs

c.2787delG

1 paper

NM_015338.6

p.E929_W930ins6

c.2785_2789ins18

1 paper

NM_015338.6

p.E929*

c.2785G>T

3 papers

NM_015338.6

p.K932*

c.2794A>T

1 paper

NM_015338.6

p.K932fs

c.2794_2795fs

1 paper

NM_015338.6

p.E928G

c.2783A>G

1 paper

NM_015338.6

p.E928fs

c.2782_2783fs

1 paper

NM_015338.6

p.A933fs

c.2797_2798fs

1 paper

NM_015338.6

p.A933_A934ins6

c.2797_2801ins18