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.S970insFs

c.2908_2909insT

Surrounding Variants

1 paper

NM_015338.6

p.S970C

c.2908A>T

1 paper

NM_015338.6

p.S970N

c.2909G>A

1 paper

NM_015338.6

p.S970_E981del0

c.2910_2942del33

1 paper

NM_015338.6

p.N971_Y974delFs

c.2911_2920del10

1 paper

NM_015338.6

p.N971H

c.2911A>C

1 paper

NM_015338.6

p.N971fs

c.2911_2912fs

1 paper

NM_015338.6

p.D969fs

c.2905_2906fs

1 paper

NM_015338.6

p.S968insFs

c.2904dupT

1 paper

NM_015338.6

p.G967D

c.2900G>A

10 papers

NM_015338.6

p.G967del1

c.2899_2900delGGC

1 paper

NM_015338.6

p.S973_V978del0

c.2919_2933del15

1 paper

NM_015338.6

p.G967_S968delFs

c.2900_2903del4