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.G610G

c.1830C>T

Surrounding Variants

1 paper

NM_015338.6

p.G610_A611insFs

c.1830_1831insTA

11 papers

NM_015338.6

p.A611T

c.1831G>A

1 paper

NM_015338.6

p.A611fs

c.1831_1832fs

1 paper

NM_015338.6

p.A611S

c.1831G>T

1 paper

NM_015338.6

p.A611fs

c.1831_1832fs

1 paper

NM_015338.6

p.G610S

c.1828G>A

1 paper

NM_015338.6

p.T613_G626delFs

c.1837_1877del41

1 paper

NM_015338.6

p.R612_R625del14

c.1834_1874del42

1 paper

NM_015338.6

p.G610insFs

c.1829dupG

1 paper

NM_015338.6

p.T609S

c.1826C>G

1 paper

NM_015338.6

p.T609I

c.1826C>T

1 paper

NM_015338.6

p.T609S

c.1825A>T