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.E705delFs

c.2114delA

Surrounding Variants

1 paper

NM_015338.6

p.E705insFs

c.2114dupA

2 papers

NM_015338.6

p.E705fs

c.2113_2114fs

14 papers

NM_015338.6

p.E705*

c.2113G>T

2 papers

NM_015338.6

p.E705fs

c.2113_2114fs

1 paper

NM_015338.6

p.E705G

c.2114A>G

1 paper

NM_015338.6

p.H706fs

c.2116_2117fs

1 paper

NM_015338.6

p.H706_T707delFs

c.2118_2119delTA

13 papers

NM_015338.6

p.G704R

c.2110G>A

12 papers

NM_015338.6

p.G704R

c.2110G>C

1 paper

NM_015338.6

p.G704fs

c.2110_2111fs

3 papers

NM_015338.6

p.G704W

c.2110G>T

1 paper

NM_015338.6

p.H706insFs

c.2118dupT