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.A621fs

c.1861_1862fs

Surrounding Variants

1 paper

NM_015338.6

p.A621P

c.1861G>C

1 paper

NM_015338.6

p.A621S

c.1861G>T

1 paper

NM_015338.6

p.L622delFs

c.1864_1865delCT

1 paper

NM_015338.6

p.A621fs

c.1861_1862fs

1 paper

NM_015338.6

p.R620H

c.1859G>A

1 paper

NM_015338.6

p.R620L

c.1859G>T

4 papers

NM_015338.6

p.R620fs

c.1858_1859fs

2 papers

NM_015338.6

p.R620C

c.1858C>T

1 paper

NM_015338.6

p.R620fs

c.1858_1859fs

1 paper

NM_015338.6

p.A621_V624delFs

c.1861_1871del11

1 paper

NM_015338.6

p.L622fs

c.1864_1865fs

1 paper

NM_015338.6

p.Q623_V624insFs

c.1867_1870dup4