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.P935_T936insTTT

c.2803_2807ins9

Surrounding Variants

1 paper

NM_015338.6

p.P935fs

c.2803_2804fs

1 paper

NM_015338.6

p.A934A

c.2802T>C

1 paper

NM_015338.6

p.P935delFs

c.2805delC

1 paper

NM_015338.6

p.P935_T936delFs

c.2804_2807del4

1 paper

NM_015338.6

p.A934V

c.2801C>T

3 papers

NM_015338.6

p.T936fs

c.2806_2807fs

1 paper

NM_015338.6

p.T936_P937insCAG

c.2806_2810ins9

2 papers

NM_015338.6

p.T936P

c.2806A>C

3 papers

NM_015338.6

p.P937delFs

c.2810delC

2 papers

NM_015338.6

p.P937fs

c.2809_2810fs

1 paper

NM_015338.6

p.A933fs

c.2797_2798fs

1 paper

NM_015338.6

p.A933_A934ins6

c.2797_2801ins18