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.R717fs

c.2149_2150fs

Surrounding Variants

1 paper

NM_015338.6

p.R717fs

c.2149_2150fs

1 paper

NM_015338.6

p.R717delFs

c.2149delA

1 paper

NM_015338.6

p.R717_R718del2

c.2149_2153del6

1 paper

NM_015338.6

p.R717_S723insFs

c.2149_2167dup19

1 paper

NM_015338.6

p.A716V

c.2147C>T

1 paper

NM_015338.6

p.A716delFs

c.2148delT

1 paper

NM_015338.6

p.R717S

c.2151G>C

1 paper

NM_015338.6

p.R717S

c.2151G>T

4 papers

NM_015338.6

p.R718*

c.2152A>T

1 paper

NM_015338.6

p.R718fs

c.2152_2153fs

1 paper

NM_015338.6

p.A716fs

c.2146_2147fs

1 paper

NM_015338.6

p.A716delFs

c.2147delC