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

2 papers

NM_015338.6

p.S1013fs

c.3037_3038fs

Surrounding Variants

2 papers

NM_015338.6

p.S1013_A1016delFs

c.3037_3047del11

2 papers

NM_015338.6

p.S1014fs

c.3040_3041fs

2 papers

NM_015338.6

p.D1012fs

c.3034_3035fs

1 paper

NM_015338.6

p.D1012fs

c.3034_3035fs

1 paper

NM_015338.6

p.S1013_T1018delFs

c.3037_3053del17

2 papers

NM_015338.6

p.E1015*

c.3043G>T

1 paper

NM_015338.6

p.T1010R

c.3029C>G

2 papers

NM_015338.6

p.T1010M

c.3029C>T

1 paper

NM_015338.6

p.T1010fs

c.3028_3029fs

2 papers

NM_015338.6

p.A1016T

c.3046G>A

1 paper

NM_015338.6

p.A1016fs

c.3046_3047fs

1 paper

NM_015338.6

p.T1010insFs

c.3028dupA