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

2 papers

NM_015338.6

p.P698fs

c.2092_2093fs

Surrounding Variants

1 paper

NM_015338.6

p.P698insFs

c.2092_2093ins4

2 papers

NM_015338.6

p.P698fs

c.2092_2093fs

1 paper

NM_015338.6

p.P698L

c.2093C>T

3 papers

NM_015338.6

p.L697fs

c.2089_2090fs

1 paper

NM_015338.6

p.P699fs

c.2095_2096fs

1 paper

NM_015338.6

p.P699S

c.2095C>T

1 paper

NM_015338.6

p.L697insFs

c.2089_2090ins4

1 paper

NM_015338.6

p.L696_L697insFs

c.2088_2089insGC

1 paper

NM_015338.6

p.P699insFs

c.2096_2097insT

1 paper

NM_015338.6

p.Y700_N703insFs

c.2099_2109dup11

3 papers

NM_015338.6

p.L696fs

c.2086_2087fs

1 paper

NM_015338.6

p.L696_Y700delFs

c.2087_2100del14