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.Q733L

c.2198A>T

Surrounding Variants

2 papers

NM_015338.6

p.Q733fs

c.2197_2198fs

26 papers

NM_015338.6

p.Q733*

c.2197C>T

1 paper

NM_015338.6

p.Q733fs

c.2197_2198fs

1 paper

NM_015338.6

p.R734fs

c.2200_2201fs

1 paper

NM_015338.6

p.L732P

c.2195T>C

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.L732_R734del0

c.2194_2202del9

2 papers

NM_015338.6

p.A735fs

c.2203_2204fs

1 paper

NM_015338.6

p.A735insFs

c.2203_2204insTC