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.L731delFs

c.2193delA

Surrounding Variants

1 paper

NM_015338.6

p.L731insFs

c.2192_2193ins4

1 paper

NM_015338.6

p.L732_R734del0

c.2194_2202del9

2 papers

NM_015338.6

p.L731fs

c.2191_2192fs

1 paper

NM_015338.6

p.L731V

c.2191C>G

1 paper

NM_015338.6

p.L731fs

c.2191_2192fs

3 papers

NM_015338.6

p.C730*

c.2190C>A

1 paper

NM_015338.6

p.L732fs

c.2194_2195fs

1 paper

NM_015338.6

p.L732_Q733insG

c.2194_2198ins3

1 paper

NM_015338.6

p.L732fs

c.2194_2195fs

1 paper

NM_015338.6

p.L732_D741delFs

c.2196_2223del28

1 paper

NM_015338.6

p.C730Y

c.2189G>A

1 paper

NM_015338.6

p.C730delFs

c.2190delC