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

8 papers

NM_015338.6

p.A627insFs

c.1879dupG

Surrounding Variants

1 paper

NM_015338.6

p.G626_A627delFs

c.1878_1879delGG

6 papers

NM_015338.6

p.R625Q

c.1874G>A

2 papers

NM_015338.6

p.G626fs

c.1876_1877fs

5 papers

NM_015338.6

p.R625L

c.1874G>T

1 paper

NM_015338.6

p.G626fs

c.1876_1877fs

5 papers

NM_015338.6

p.R625fs

c.1873_1874fs

3 papers

NM_015338.6

p.R625G

c.1873C>G

4 papers

NM_015338.6

p.R625*

c.1873C>T

1 paper

NM_015338.6

p.R625_G626delFs

c.1875_1876delAG

6 papers

NM_015338.6

p.R625fs

c.1873_1874fs

1 paper

NM_015338.6

p.R625_A627delFs

c.1875_1879del5

1 paper

NM_015338.6

p.A627_G629insFs

c.1880_1886dup7