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.N423fs

c.1267_1268fs

Surrounding Variants

3 papers

NM_015338.6

p.N423insFs

c.1269dupT

1 paper

NM_015338.6

p.N423T

c.1268A>C

1 paper

NM_015338.6

p.R422_N423delFs

c.1266_1267delGA

1 paper

NM_015338.6

p.L424_Y425del2

c.1270_1274del6

3 papers

NM_015338.6

p.L424fs

c.1270_1271fs

6 papers

NM_015338.6

p.L424_Y425delFs

c.1272_1273delGT

1 paper

NM_015338.6

p.R421*

c.1261A>T

1 paper

NM_015338.6

p.Y425fs

c.1273_1274fs

5 papers

NM_015338.6

p.Y425fs

c.1273_1274fs

5 papers

NM_015338.6

p.Y425*

c.1275C>A

9 papers

NM_015338.6

p.K427insFs

c.1281dupA

5 papers

NM_015338.6

p.Y425*

c.1275C>G