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.D128E

c.384T>A

Surrounding Variants

1 paper

NM_015338.6

p.E129_T130insFs

c.387_388insC

1 paper

NM_015338.6

p.L127V

c.379C>G

1 paper

NM_015338.6

p.L127fs

c.379_380fs

1 paper

NM_015338.6

p.L127delFs

c.379delC

1 paper

NM_015338.6

p.S126C

c.377C>G

1 paper

NM_015338.6

p.V125V

c.375A>T

1 paper

NM_015338.6

p.V125E

c.374T>A

1 paper

NM_015338.6

p.S132L

c.395C>T

2 papers

NM_015338.6

p.V125Splc

c.374-1G>A

1 paper

NM_015338.6

p.A134T

c.400G>A

3 papers

NM_015338.6

p.S135C

c.404C>G

1 paper

NM_015338.6

p.S137_Q141Fs

c.409_422delinsTGGACGFs