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.T711fs

c.2131_2132fs

Surrounding Variants

1 paper

NM_015338.6

p.T711I

c.2132C>T

1 paper

NM_015338.6

p.G710E

c.2129G>A

1 paper

NM_015338.6

p.G710R

c.2128G>A

1 paper

NM_015338.6

p.G710R

c.2128G>C

10 papers

NM_015338.6

p.G710fs

c.2128_2129fs

11 papers

NM_015338.6

p.G710*

c.2128G>T

1 paper

NM_015338.6

p.A712delFs

c.2136delC

3 papers

NM_015338.6

p.G710fs

c.2128_2129fs

1 paper

NM_015338.6

p.G710insFs

c.2128dupG

1 paper

NM_015338.6

p.A712_R725delFs

c.2136_2175del40

7 papers

NM_015338.6

p.G710delFs

c.2128delG

1 paper

NM_015338.6

p.A709D

c.2126C>A