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.V751insFs

c.2253dupT

Surrounding Variants

6 papers

NM_015338.6

p.V751I

c.2251G>A

1 paper

NM_015338.6

p.V751insFs

c.2251_2252insC

3 papers

NM_015338.6

p.V751fs

c.2251_2252fs

1 paper

NM_015338.6

p.V751F

c.2251G>T

1 paper

NM_015338.6

p.V751delFs

c.2253delT

5 papers

NM_015338.6

p.V751fs

c.2251_2252fs

8 papers

NM_015338.6

p.A752insFs

c.2254dupG

2 papers

NM_015338.6

p.A752delFs

c.2254delG

1 paper

NM_015338.6

p.P750S

c.2248C>T

5 papers

NM_015338.6

p.A752fs

c.2254_2255fs

7 papers

NM_015338.6

p.A752fs

c.2254_2255fs

1 paper

NM_015338.6

p.A752_T754delFs

c.2255_2261del7