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.G644W

c.1930G>T

Surrounding Variants

1 paper

NM_015338.6

p.G644R

c.1930G>A

1 paper

NM_015338.6

p.G644R

c.1930G>C

8 papers

NM_015338.6

p.G644fs

c.1930_1931fs

5 papers

NM_015338.6

p.G644fs

c.1930_1931fs

1 paper

NM_015338.6

p.G644E

c.1931G>A

1 paper

NM_015338.6

p.G644insFs

c.1931_1932ins4

2 papers

NM_015338.6

p.G643E

c.1928G>A

2 papers

NM_015338.6

p.G643A

c.1928G>C

3 papers

NM_015338.6

p.G644_G645insFs

c.1932_1933insC

1 paper

NM_015338.6

p.G643insFs

c.1928_1929insC

2 papers

NM_015338.6

p.G644_G645insFs

c.1932_1933insT

9 papers

NM_015338.6

p.G643V

c.1928G>T