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.D457fs

c.1369_1370fs

Surrounding Variants

3 papers

NM_015338.6

p.D457fs

c.1369_1370fs

1 paper

NM_015338.6

p.D457Y

c.1369G>T

1 paper

NM_015338.6

p.D457delFs

c.1370_1371delAC

2 papers

NM_015338.6

p.D457insFs

c.1370_1371insG

2 papers

NM_015338.6

p.P458delFs

c.1373delC

1 paper

NM_015338.6

p.P458delFs

c.1372_1373delCC

1 paper

NM_015338.6

p.T456I

c.1367C>T

1 paper

NM_015338.6

p.P458fs

c.1372_1373fs

1 paper

NM_015338.6

p.K455_T456delFs

c.1365_1368del4

3 papers

NM_015338.6

p.K455fs

c.1363_1364fs

2 papers

NM_015338.6

p.K455*

c.1363A>T

1 paper

NM_015338.6

p.K455_T456delFs

c.1365_1366delGA