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.I985insFs

c.2953dupA

Surrounding Variants

1 paper

NM_015338.6

p.K984*

c.2950A>T

1 paper

NM_015338.6

p.L983P

c.2948T>C

1 paper

NM_015338.6

p.L983R

c.2948T>G

1 paper

NM_015338.6

p.I985_N986delFs

c.2954_2957del4

1 paper

NM_015338.6

p.L983fs

c.2947_2948fs

2 papers

NM_015338.6

p.I985fs

c.2953_2954fs

1 paper

NM_015338.6

p.K982R

c.2945A>G

1 paper

NM_015338.6

p.I985V

c.2953A>G

1 paper

NM_015338.6

p.I985fs

c.2953_2954fs

2 papers

NM_015338.6

p.K982*

c.2944A>T

1 paper

NM_015338.6

p.I985_N986insFs

c.2955_2956insGC

4 papers

NM_015338.6

p.I985delFs

c.2955delC