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.L885_K886delFs

c.2655_2656delGA

Surrounding Variants

1 paper

NM_015338.6

p.L885*

c.2654T>A

1 paper

NM_015338.6

p.L885delFs

c.2655delG

1 paper

NM_015338.6

p.K886_A889delFs

c.2656_2665del10

1 paper

NM_015338.6

p.L885_A889delFs

c.2655_2665del11

1 paper

NM_015338.6

p.L885_N893delFs

c.2655_2679del25

1 paper

NM_015338.6

p.T887insFs

c.2659dupA

1 paper

NM_015338.6

p.K886_T887delFs

c.2656_2660del5

1 paper

NM_015338.6

p.K886_A889delFs

c.2656_2666del11

1 paper

NM_015338.6

p.K886_A889del0

c.2656_2667del12

1 paper

NM_015338.6

p.K886_L890delFs

c.2656_2668del13

1 paper

NM_015338.6

p.K886_V891del0

c.2656_2673del18

1 paper

NM_015338.6

p.K886_N893delFs

c.2657_2678del22