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

6 papers

NM_015338.6

p.S714C

c.2141C>G

Surrounding Variants

1 paper

NM_015338.6

p.S714_R715delFs

c.2142_2143delCA

1 paper

NM_015338.6

p.S714T

c.2140T>A

1 paper

NM_015338.6

p.S714P

c.2140T>C

2 papers

NM_015338.6

p.S714delFs

c.2141delC

1 paper

NM_015338.6

p.R715fs

c.2143_2144fs

1 paper

NM_015338.6

p.R715*

c.2143A>T

1 paper

NM_015338.6

p.R715delFs

c.2144delG

2 papers

NM_015338.6

p.R715fs

c.2143_2144fs

1 paper

NM_015338.6

p.M713I

c.2139G>A

1 paper

NM_015338.6

p.M713I

c.2139G>C

1 paper

NM_015338.6

p.M713I

c.2139G>T

1 paper

NM_015338.6

p.S714delFs

c.2140delT