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.R404fs

c.1210_1211fs

Surrounding Variants

58 papers

NM_015338.6

p.R404*

c.1210C>T

1 paper

NM_015338.6

p.Q403delFs

c.1209delG

1 paper

NM_015338.6

p.R404delFs

c.1210_1211delCG

1 paper

NM_015338.6

p.Q403insFs

c.1208dupA

1 paper

NM_015338.6

p.Q403*

c.1207C>T

1 paper

NM_015338.6

p.Q403fs

c.1207_1208fs

1 paper

NM_015338.6

p.R402R

c.1206A>C

1 paper

NM_015338.6

p.R402R

c.1206A>T

8 papers

NM_015338.6

p.R402Q

c.1205G>A

1 paper

NM_015338.6

p.G406_H407insFs

c.1218_1219insG

1 paper

NM_015338.6

p.R402fs

c.1204_1205fs

2 papers

NM_015338.6

p.R402*

c.1204C>T