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.K726R

c.2177A>G

Surrounding Variants

1 paper

NM_015338.6

p.K726insFs

c.2176_2177insAG

2 papers

NM_015338.6

p.K726fs

c.2176_2177fs

2 papers

NM_015338.6

p.K726*

c.2176A>T

1 paper

NM_015338.6

p.K726fs

c.2176_2177fs

1 paper

NM_015338.6

p.E727K

c.2179G>A

7 papers

NM_015338.6

p.E727*

c.2179G>T

2 papers

NM_015338.6

p.R725*

c.2173A>T

1 paper

NM_015338.6

p.R725fs

c.2173_2174fs

1 paper

NM_015338.6

p.E728_S729insFs

c.2184_2185dupAA

5 papers

NM_015338.6

p.E728*

c.2182G>T

2 papers

NM_015338.6

p.S729delFs

c.2185delA

1 paper

NM_015338.6

p.E728fs

c.2182_2183fs