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.L953fs

c.2857_2858fs

Surrounding Variants

1 paper

NM_015338.6

p.L953F

c.2857C>T

1 paper

NM_015338.6

p.L953delFs

c.2858_2859delTT

1 paper

NM_015338.6

p.P952L

c.2855C>T

1 paper

NM_015338.6

p.P952fs

c.2854_2855fs

1 paper

NM_015338.6

p.P952delFs

c.2855_2856delCT

1 paper

NM_015338.6

p.L953_W960delFs

c.2859_2878del20

1 paper

NM_015338.6

p.D954G

c.2861A>G

1 paper

NM_015338.6

p.P952insFs

c.2854dupC

1 paper

NM_015338.6

p.D951insFs

c.2852_2853ins7

1 paper

NM_015338.6

p.D954E

c.2862C>A

1 paper

NM_015338.6

p.D954E

c.2862C>G

2 papers

NM_015338.6

p.D951fs

c.2851_2852fs