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.P722R

c.2165C>G

Surrounding Variants

2 papers

NM_015338.6

p.S723delFs

c.2167delT

1 paper

NM_015338.6

p.P722fs

c.2164_2165fs

2 papers

NM_015338.6

p.P722S

c.2164C>T

1 paper

NM_015338.6

p.P722_S723insFs

c.2166_2167insC

1 paper

NM_015338.6

p.S723fs

c.2167_2168fs

2 papers

NM_015338.6

p.S723fs

c.2167_2168fs

1 paper

NM_015338.6

p.L721Q

c.2162T>A

1 paper

NM_015338.6

p.L721R

c.2162T>G

1 paper

NM_015338.6

p.L721delFs

c.2163delG

2 papers

NM_015338.6

p.L721fs

c.2161_2162fs

1 paper

NM_015338.6

p.L721fs

c.2161_2162fs

1 paper

NM_015338.6

p.D720_L721insFs

c.2160_2161insTC