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.A889_W898del0

c.2667_2693del27

Surrounding Variants

1 paper

NM_015338.6

p.A889P

c.2665G>C

1 paper

NM_015338.6

p.A889_L896delFs

c.2666_2687del22

1 paper

NM_015338.6

p.A889_H897delFs

c.2666_2691del26

1 paper

NM_015338.6

p.A889_P900delFs

c.2666_2699del34

1 paper

NM_015338.6

p.A889_N904delFs

c.2666_2711del46

1 paper

NM_015338.6

p.L890_H897delFs

c.2668_2689del22

1 paper

NM_015338.6

p.L890insFs

c.2669dupT

4 papers

NM_015338.6

p.L890F

c.2668C>T

1 paper

NM_015338.6

p.A889_W898delFs

c.2665_2692del28

1 paper

NM_015338.6

p.A889_I899delFs

c.2665_2695del31

1 paper

NM_015338.6

p.K888T

c.2663A>C

1 paper

NM_015338.6

p.K888_L896del0

c.2664_2687del24