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.I919_P920ins6

c.2755_2759ins18

Surrounding Variants

2 papers

NM_015338.6

p.I919fs

c.2755_2756fs

1 paper

NM_015338.6

p.I919V

c.2755A>G

2 papers

NM_015338.6

p.I919fs

c.2755_2756fs

1 paper

NM_015338.6

p.H918_I919insFs

c.2754_2755insA

1 paper

NM_015338.6

p.I919delFs

c.2755_2756delAT

10 papers

NM_015338.6

p.I919insFs

c.2757dupA

6 papers

NM_015338.6

p.P920_S921insFs

c.2759_2762dup4

3 papers

NM_015338.6

p.P920fs

c.2758_2759fs

1 paper

NM_015338.6

p.H918fs

c.2752_2753fs

1 paper

NM_015338.6

p.P920_S921ins6

c.2758_2762ins18

1 paper

NM_015338.6

p.P920Fs

c.2758_2759delinsGFs

6 papers

NM_015338.6

p.P920fs

c.2758_2759fs