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.K888_S894delFs

c.2662_2680del19

Surrounding Variants

1 paper

NM_015338.6

p.K888_N893delFs

c.2662_2678del17

1 paper

NM_015338.6

p.K888_I899del0

c.2663_2695del33

1 paper

NM_015338.6

p.K888insFs

c.2662_2663ins8

1 paper

NM_015338.6

p.K888E

c.2662A>G

1 paper

NM_015338.6

p.K888*

c.2662A>T

1 paper

NM_015338.6

p.K888_L896delFs

c.2663_2687del25

1 paper

NM_015338.6

p.K888_H897delFs

c.2663_2691del29

1 paper

NM_015338.6

p.K888_I899delFs

c.2663_2696del34

1 paper

NM_015338.6

p.K888_P902delFs

c.2663_2705del43

1 paper

NM_015338.6

p.T887I

c.2660C>T

1 paper

NM_015338.6

p.T887_K888delFs

c.2661_2662delCA

1 paper

NM_015338.6

p.T887_N893delFs

c.2661_2677del17