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

7 papers

NM_015338.6

p.C672fs

c.2014_2015fs

Surrounding Variants

2 papers

NM_015338.6

p.C672fs

c.2014_2015fs

1 paper

NM_015338.6

p.A671V

c.2012C>T

5 papers

NM_015338.6

p.A671_C672delFs

c.2013_2014delCT

3 papers

NM_015338.6

p.C672*

c.2016T>A

2 papers

NM_015338.6

p.A671fs

c.2011_2012fs

1 paper

NM_015338.6

p.A671delFs

c.2013delC

1 paper

NM_015338.6

p.A671fs

c.2011_2012fs

1 paper

NM_015338.6

p.A671_H674delFs

c.2013_2020del8

1 paper

NM_015338.6

p.G673_G680delFs

c.2019_2038del20

1 paper

NM_015338.6

p.G673D

c.2018G>A

1 paper

NM_015338.6

p.E670_A671insFs

c.2010_2011insCC

1 paper

NM_015338.6

p.E670D

c.2010G>T