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

18 papers

NM_015338.6

p.G642*

c.1924G>T

Surrounding Variants

1 paper

NM_015338.6

p.G642R

c.1924G>A

1 paper

NM_015338.6

p.G642insFs

c.1924_1925insA

64 papers

NM_015338.6

p.G642fs

c.1924_1925fs

NM_001363734.1

p.G581fs

c.1741_1742fs

1 paper

NM_015338.6

p.G642_G643delFs

c.1926_1927delAG

2 papers

NM_015338.6

p.G642fs

c.1924_1925fs

2 papers

NM_015338.6

p.G642_G646delFs

c.1926_1936del11

6 papers

NM_015338.6

p.G642insFs

c.1925dupG

1 paper

NM_015338.6

p.G642insFs

c.1924_1925dupGG

1 paper

NM_015338.6

p.I641_G642insFs

c.1923_1924insT

1 paper

NM_015338.6

p.I641I

c.1923C>T

1 paper

NM_015338.6

p.G642delFs

c.1924_1925delGG

1 paper

NM_015338.6

p.G642_G643delFs

c.1926_1929del4