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.P924L

c.2771C>T

Surrounding Variants

1 paper

NM_015338.6

p.P924_G927Fs

c.2771_2781delinsTFs

1 paper

NM_015338.6

p.P924S

c.2770C>T

1 paper

NM_015338.6

p.P924fs

c.2770_2771fs

1 paper

NM_015338.6

p.Q925_V926insTGG

c.2773_2777ins9

12 papers

NM_015338.6

p.Q925*

c.2773C>T

1 paper

NM_015338.6

p.Q925delFs

c.2773delC

1 paper

NM_015338.6

p.E923_P924ins15

c.2767_2771ins45

4 papers

NM_015338.6

p.E923*

c.2767G>T

1 paper

NM_015338.6

p.V922fs

c.2764_2765fs

6 papers

NM_015338.6

p.V922fs

c.2764_2765fs

1 paper

NM_015338.6

p.G927R

c.2779G>A

1 paper

NM_015338.6

p.G927R

c.2779G>C