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.R578C

c.1732C>T

Surrounding Variants

13 papers

NM_015338.6

p.S577*

c.1730C>A

13 papers

NM_015338.6

p.S577*

c.1730C>G

2 papers

NM_015338.6

p.R578_P582Fs

c.1734_1745delinsTFs

1 paper

NM_015338.6

p.I579V

c.1735A>G

1 paper

NM_015338.6

p.I579fs

c.1735_1736fs

1 paper

NM_015338.6

p.I579_V585delFs

c.1736_1755del20

1 paper

NM_015338.6

p.L576P

c.1727T>C

1 paper

NM_015338.6

p.L576R

c.1727T>G

1 paper

NM_015338.6

p.K580fs

c.1738_1739fs

4 papers

NM_015338.6

p.K580*

c.1738A>T

1 paper

NM_015338.6

p.L576fs

c.1726_1727fs

1 paper

NM_015338.6

p.Q575Q

c.1725A>G