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.G1185fs

c.3553_3554fs

Surrounding Variants

1 paper

NM_015338.6

p.G1185insFs

c.3554dupG

1 paper

NM_015338.6

p.T1184I

c.3551C>T

1 paper

NM_015338.6

p.T1186P

c.3556A>C

1 paper

NM_015338.6

p.T1186fs

c.3556_3557fs

1 paper

NM_015338.6

p.T1186T

c.3558T>C

1 paper

NM_015338.6

p.E1183K

c.3547G>A

2 papers

NM_015338.6

p.E1183*

c.3547G>T

1 paper

NM_015338.6

p.G1187V

c.3560G>T

2 papers

NM_015338.6

p.C1182*

c.3546T>A

1 paper

NM_015338.6

p.S1181R

c.3543C>A

1 paper

NM_015338.6

p.S1181R

c.3543C>G

1 paper

NM_015338.6

p.S1181R

c.3541A>C