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.L749fs

c.2245_2246fs

Surrounding Variants

1 paper

NM_015338.6

p.L749insFs

c.2245_2246insGG

1 paper

NM_015338.6

p.L749fs

c.2245_2246fs

1 paper

NM_015338.6

p.L749delFs

c.2246delT

1 paper

NM_015338.6

p.L749_P750delFs

c.2246_2249del4

1 paper

NM_015338.6

p.L749insFs

c.2246_2247insCC

1 paper

NM_015338.6

p.L749delFs

c.2247delC

2 papers

NM_015338.6

p.Q748fs

c.2242_2243fs

24 papers

NM_015338.6

p.Q748*

c.2242C>T

1 paper

NM_015338.6

p.P750S

c.2248C>T

1 paper

NM_015338.6

p.Q748delFs

c.2243delA

1 paper

NM_015338.6

p.Q748_L749insFs

c.2243_2247dup5

6 papers

NM_015338.6

p.V751I

c.2251G>A