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.E947K

c.2839G>A

Surrounding Variants

1 paper

NM_015338.6

p.E947Q

c.2839G>C

1 paper

NM_015338.6

p.E947fs

c.2839_2840fs

6 papers

NM_015338.6

p.E947*

c.2839G>T

2 papers

NM_015338.6

p.A946insFs

c.2837_2838insT

7 papers

NM_015338.6

p.E948*

c.2842G>T

1 paper

NM_015338.6

p.T945I

c.2834C>T

1 paper

NM_015338.6

p.T945delFs

c.2835delA

1 paper

NM_015338.6

p.G949R

c.2845G>C

1 paper

NM_015338.6

p.G949_L950insGTC

c.2845_2849ins9

1 paper

NM_015338.6

p.G949delFs

c.2846_2847delGT

2 papers

NM_015338.6

p.L944*

c.2831T>A

1 paper

NM_015338.6

p.G949G

c.2847T>G