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

2 papers

NM_015338.6

p.T639_G642delFs

c.1916_1926del11

Surrounding Variants

2 papers

NM_015338.6

p.T639_G643delFs

c.1915_1928del14

1 paper

NM_015338.6

p.T638_G643Fs

c.1914_1928delinsTFs

5 papers

NM_015338.6

p.T639fs

c.1915_1916fs

1 paper

NM_015338.6

p.T639fs

c.1915_1916fs

1 paper

NM_015338.6

p.T639_G643delFs

c.1916_1928del13

1 paper

NM_015338.6

p.T639_G643delFs

c.1916_1929del14

1 paper

NM_015338.6

p.T638_I641delFs

c.1913_1923del11

1 paper

NM_015338.6

p.T639I

c.1916C>T

1 paper

NM_015338.6

p.T639_G643delFs

c.1917_1927del11

1 paper

NM_015338.6

p.A637Fs

c.1911delinsAGFs

1 paper

NM_015338.6

p.A640insFs

c.1919_1920insGC

9 papers

NM_015338.6

p.A640_G643delFs

c.1919_1929del11