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.I593fs

c.1777_1778fs

Surrounding Variants

1 paper

NM_015338.6

p.I593insFs

c.1778dupT

4 papers

NM_015338.6

p.I593V

c.1777A>G

1 paper

NM_015338.6

p.Q592H

c.1776G>C

1 paper

NM_015338.6

p.Q592H

c.1776G>T

4 papers

NM_015338.6

p.I593insFs

c.1779dupA

1 paper

NM_015338.6

p.I593delFs

c.1779delA

1 paper

NM_015338.6

p.Q592R

c.1775A>G

1 paper

NM_015338.6

p.I593M

c.1779A>G

1 paper

NM_015338.6

p.Q592fs

c.1774_1775fs

33 papers

NM_015338.6

p.Q592*

c.1774C>T

1 paper

NM_015338.6

p.C594G

c.1780T>G

5 papers

NM_015338.6

p.C594fs

c.1780_1781fs