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.L762_P763delFs

c.2284_2288del5

Surrounding Variants

1 paper

NM_015338.6

p.Q760Fs

c.2280delinsTAAFs

3 papers

NM_015338.6

p.A761T

c.2281G>A

2 papers

NM_015338.6

p.A761fs

c.2281_2282fs

1 paper

NM_015338.6

p.A761S

c.2281G>T

2 papers

NM_015338.6

p.A761delFs

c.2283delC

1 paper

NM_015338.6

p.Q760fs

c.2278_2279fs

24 papers

NM_015338.6

p.Q760*

c.2278C>T

2 papers

NM_015338.6

p.C759*

c.2277C>A

1 paper

NM_015338.6

p.L762insFs

c.2285dupT

1 paper

NM_015338.6

p.A761_L762Fs

c.2283_2284delinsAFs

1 paper

NM_015338.6

p.L762delFs

c.2285delT

1 paper

NM_015338.6

p.Q760insFs

c.2278dupC