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

14 papers

NM_015338.6

p.W960*

c.2880G>A

Surrounding Variants

13 papers

NM_015338.6

p.W960*

c.2879G>A

1 paper

NM_015338.6

p.V962delFs

c.2885_2886delTG

1 paper

NM_015338.6

p.W960fs

c.2878_2879fs

1 paper

NM_015338.6

p.W960fs

c.2878_2879fs

1 paper

NM_015338.6

p.V962fs

c.2884_2885fs

2 papers

NM_015338.6

p.V962fs

c.2884_2885fs

1 paper

NM_015338.6

p.L959fs

c.2875_2876fs

1 paper

NM_015338.6

p.L959_W960delFs

c.2877_2878delCT

7 papers

NM_015338.6

p.S958*

c.2873C>A

1 paper

NM_015338.6

p.P963fs

c.2887_2888fs

6 papers

NM_015338.6

p.S958*

c.2873C>G

1 paper

NM_015338.6

p.S958L

c.2873C>T