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.C687Y

c.2060G>A

Surrounding Variants

1 paper

NM_015338.6

p.C687S

c.2060G>C

1 paper

NM_015338.6

p.C687insFs

c.2061dupT

2 papers

NM_015338.6

p.C687delFs

c.2061delT

14 papers

NM_015338.6

p.C687*

c.2061T>A

1 paper

NM_015338.6

p.C687S

c.2059T>A

3 papers

NM_015338.6

p.C687R

c.2059T>C

1 paper

NM_015338.6

p.C687G

c.2059T>G

4 papers

NM_015338.6

p.C687fs

c.2059_2060fs

1 paper

NM_015338.6

p.T688delFs

c.2062_2063delAC

7 papers

NM_015338.6

p.C687fs

c.2059_2060fs

1 paper

NM_015338.6

p.T688fs

c.2062_2063fs

1 paper

NM_015338.6

p.T688A

c.2062A>G