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.C632Y

c.1895G>A

Surrounding Variants

1 paper

NM_015338.6

p.C632_T639delFs

c.1896_1917del22

6 papers

NM_015338.6

p.C632*

c.1896C>A

1 paper

NM_015338.6

p.C632fs

c.1894_1895fs

1 paper

NM_015338.6

p.H633N

c.1897C>A

5 papers

NM_015338.6

p.H633insFs

c.1898dupA

7 papers

NM_015338.6

p.H633fs

c.1897_1898fs

4 papers

NM_015338.6

p.H633fs

c.1897_1898fs

3 papers

NM_015338.6

p.H633R

c.1898A>G

5 papers

NM_015338.6

p.H633_R634insFs

c.1899_1900insA

4 papers

NM_015338.6

p.E635delFs

c.1904_1905delAG

1 paper

NM_015338.6

p.R634_E635delFs

c.1900_1904del5

1 paper

NM_015338.6

p.R634_I641delFs

c.1900_1921del22