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.E990*

c.2968G>T

Surrounding Variants

1 paper

NM_015338.6

p.E990fs

c.2968_2969fs

1 paper

NM_015338.6

p.S989insFs

c.2967dupT

1 paper

NM_015338.6

p.S989_E990delFs

c.2967_2968delTG

1 paper

NM_015338.6

p.A991T

c.2971G>A

1 paper

NM_015338.6

p.A991fs

c.2971_2972fs

2 papers

NM_015338.6

p.A991_H995delFs

c.2973_2985del13

1 paper

NM_015338.6

p.S989_S998insFs

c.2965_2993dup29

3 papers

NM_015338.6

p.S989delFs

c.2966_2967delCT

1 paper

NM_015338.6

p.L992_P994del3

c.2974_2981del9

1 paper

NM_015338.6

p.L992fs

c.2974_2975fs

1 paper

NM_015338.6

p.L992delFs

c.2975_2976delTG

1 paper

NM_015338.6

p.L992fs

c.2974_2975fs