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.K440*

c.1318A>T

Surrounding Variants

1 paper

NM_015338.6

p.K440Q

c.1318A>C

1 paper

NM_015338.6

p.K440fs

c.1318_1319fs

1 paper

NM_015338.6

p.S441_S444del0

c.1323_1331del9

1 paper

NM_015338.6

p.S441Y

c.1322C>A

1 paper

NM_015338.6

p.D438V

c.1313A>T

1 paper

NM_015338.6

p.D438N

c.1312G>A

1 paper

NM_015338.6

p.K437*

c.1309A>T

1 paper

NM_015338.6

p.K437fs

c.1309_1310fs

2 papers

NM_015338.6

p.A436P

c.1306G>C

1 paper

NM_015338.6

p.A436S

c.1306G>T

1 paper

NM_015338.6

p.S444T

c.1330T>A

9 papers

NM_015338.6

p.S444*

c.1331C>A