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.P1062fs

c.3184_3185fs

Surrounding Variants

1 paper

NM_015338.6

p.P1062S

c.3184C>T

1 paper

NM_015338.6

p.P1062delFs

c.3184delC

1 paper

NM_015338.6

p.A1061V

c.3182C>T

1 paper

NM_015338.6

p.Q1063insFs

c.3188dupA

1 paper

NM_015338.6

p.Q1063fs

c.3187_3188fs

1 paper

NM_015338.6

p.Q1063E

c.3187C>G

23 papers

NM_015338.6

p.Q1063*

c.3187C>T

1 paper

NM_015338.6

p.S1064delFs

c.3190_3191delAG

1 paper

NM_015338.6

p.S1064fs

c.3190_3191fs

1 paper

NM_015338.6

p.S1064G

c.3190A>G

1 paper

NM_015338.6

p.V1060fs

c.3178_3179fs

1 paper

NM_015338.6

p.M1059fs

c.3175_3176fs