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

2 papers

NM_015338.6

p.R596W

c.1786C>T

Surrounding Variants

2 papers

NM_015338.6

p.R596fs

c.1786_1787fs

3 papers

NM_015338.6

p.R596delFs

c.1787delG

3 papers

NM_015338.6

p.R596fs

c.1786_1787fs

1 paper

NM_015338.6

p.R596Q

c.1787G>A

1 paper

NM_015338.6

p.R596P

c.1787G>C

1 paper

NM_015338.6

p.R596L

c.1787G>T

4 papers

NM_015338.6

p.I597fs

c.1789_1790fs

1 paper

NM_015338.6

p.P595S

c.1783C>T

22 papers

NM_015338.6

p.C594*

c.1782C>A

1 paper

NM_015338.6

p.I598delFs

c.1792_1793delAT

2 papers

NM_015338.6

p.R596insFs

c.1786dupC

1 paper

NM_015338.6

p.R596delFs

c.1786delC