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.K886_K888delFs

c.2658_2664del7

Surrounding Variants

1 paper

NM_015338.6

p.K886_L890delFs

c.2658_2670del13

1 paper

NM_015338.6

p.K886_V891delFs

c.2658_2673del16

1 paper

NM_015338.6

p.K886_S892delFs

c.2658_2676del19

1 paper

NM_015338.6

p.K886_L896delFs

c.2658_2686del29

1 paper

NM_015338.6

p.T887_H897delFs

c.2659_2690del32

1 paper

NM_015338.6

p.K886*

c.2656A>T

1 paper

NM_015338.6

p.K886_L890delFs

c.2657_2670del14

1 paper

NM_015338.6

p.T887_V891delFs

c.2659_2672del14

1 paper

NM_015338.6

p.T887_W898del0

c.2659_2694del36

1 paper

NM_015338.6

p.T887delFs

c.2660delC

1 paper

NM_015338.6

p.T887_P900delFs

c.2661_2700del40

1 paper

NM_015338.6

p.T887insFs

c.2659dupA