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.G987fs

c.2959_2960fs

Surrounding Variants

3 papers

NM_015338.6

p.G987R

c.2959G>A

3 papers

NM_015338.6

p.G987R

c.2959G>C

6 papers

NM_015338.6

p.G987*

c.2959G>T

2 papers

NM_015338.6

p.G987fs

c.2959_2960fs

2 papers

NM_015338.6

p.G987delFs

c.2960delG

36 papers

NM_015338.6

p.N986S

c.2957A>G

1 paper

NM_015338.6

p.N986I

c.2957A>T

2 papers

NM_015338.6

p.N986fs

c.2956_2957fs

3 papers

NM_015338.6

p.N986fs

c.2956_2957fs

1 paper

NM_015338.6

p.D988_S989insFs

c.2963_2966dup4

1 paper

NM_015338.6

p.S989_S998insFs

c.2965_2993dup29

3 papers

NM_015338.6

p.S989delFs

c.2966_2967delCT