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

3 papers

NM_015338.6

p.E431*

c.1291G>T

Surrounding Variants

1 paper

NM_015338.6

p.E431Q

c.1291G>C

1 paper

NM_015338.6

p.E431_Q432ins2

c.1293_1294ins6

10 papers

NM_015338.6

p.S430*

c.1289C>A

10 papers

NM_015338.6

p.S430*

c.1289C>G

9 papers

NM_015338.6

p.Q432*

c.1294C>T

1 paper

NM_015338.6

p.A433fs

c.1297_1298fs

6 papers

NM_015338.6

p.E429*

c.1285G>T

2 papers

NM_015338.6

p.A433_G434insFs

c.1299_1300insG

5 papers

NM_015338.6

p.Q428fs

c.1282_1283fs

11 papers

NM_015338.6

p.Q428*

c.1282C>T

1 paper

NM_015338.6

p.Q428delFs

c.1283_1284delAG

7 papers

NM_015338.6

p.Q428fs

c.1282_1283fs