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.G1058E

c.3173G>A

Surrounding Variants

1 paper

NM_015338.6

p.G1058W

c.3172G>T

1 paper

NM_015338.6

p.G1058fs

c.3172_3173fs

1 paper

NM_015338.6

p.M1059fs

c.3175_3176fs

1 paper

NM_015338.6

p.M1059_P1062delFs

c.3177_3186del10

1 paper

NM_015338.6

p.D1057E

c.3171T>A

1 paper

NM_015338.6

p.D1057E

c.3171T>G

1 paper

NM_015338.6

p.D1057G

c.3170A>G

1 paper

NM_015338.6

p.D1057fs

c.3169_3170fs

1 paper

NM_015338.6

p.V1060fs

c.3178_3179fs

1 paper

NM_015338.6

p.A1061V

c.3182C>T

1 paper

NM_015338.6

p.R1055W

c.3163A>T

1 paper

NM_015338.6

p.P1062delFs

c.3184delC