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.F1005fs

c.3013_3014fs

Surrounding Variants

2 papers

NM_015338.6

p.F1005fs

c.3013_3014fs

3 papers

NM_015338.6

p.F1005delFs

c.3013delT

1 paper

NM_015338.6

p.E1006K

c.3016G>A

1 paper

NM_015338.6

p.D1004fs

c.3010_3011fs

1 paper

NM_015338.6

p.G1007delFs

c.3020delG

1 paper

NM_015338.6

p.G1007R

c.3019G>C

1 paper

NM_015338.6

p.G1007fs

c.3019_3020fs

1 paper

NM_015338.6

p.G1007fs

c.3019_3020fs

1 paper

NM_015338.6

p.S1003P

c.3007T>C

3 papers

NM_015338.6

p.S1003fs

c.3007_3008fs

1 paper

NM_015338.6

p.S1003fs

c.3007_3008fs

1 paper

NM_015338.6

p.L1009_T1010delFs

c.3025_3029del5