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.V585A

c.1754T>C

Surrounding Variants

1 paper

NM_015338.6

p.V585fs

c.1753_1754fs

1 paper

NM_015338.6

p.V585insFs

c.1755dupT

1 paper

NM_015338.6

p.V585fs

c.1753_1754fs

3 papers

NM_015338.6

p.K586insFs

c.1758dupA

3 papers

NM_015338.6

p.K586fs

c.1756_1757fs

8 papers

NM_015338.6

p.K586*

c.1756A>T

1 paper

NM_015338.6

p.K586_P589delFs

c.1758_1765del8

1 paper

NM_015338.6

p.V584Fs

c.1751delinsTGFs

1 paper

NM_015338.6

p.V585delFs

c.1753delG

1 paper

NM_015338.6

p.G587insFs

c.1760dupG

1 paper

NM_015338.6

p.K586N

c.1758A>C

1 paper

NM_015338.6

p.K586N

c.1758A>T