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.Q623_V624delFs

c.1869_1870delGG

Surrounding Variants

1 paper

NM_015338.6

p.V624_G626delFs

c.1871_1878del8

3 papers

NM_015338.6

p.Q623fs

c.1867_1868fs

19 papers

NM_015338.6

p.Q623*

c.1867C>T

2 papers

NM_015338.6

p.Q623fs

c.1867_1868fs

1 paper

NM_015338.6

p.L622L

c.1866G>C

1 paper

NM_015338.6

p.V624fs

c.1870_1871fs

3 papers

NM_015338.6

p.V624insFs

c.1871_1872insT

1 paper

NM_015338.6

p.V624_R625insFs

c.1872_1873ins7

1 paper

NM_015338.6

p.Q623_A627delFs

c.1867_1880del14

2 papers

NM_015338.6

p.V624fs

c.1870_1871fs

2 papers

NM_015338.6

p.V624A

c.1871T>C

1 paper

NM_015338.6

p.Q623_V624insFs

c.1867_1870dup4