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.K409N

c.1227G>T

Surrounding Variants

1 paper

NM_015338.6

p.K409N

c.1227G>C

1 paper

NM_015338.6

p.K409R

c.1226A>G

3 papers

NM_015338.6

p.K410*

c.1228A>T

1 paper

NM_015338.6

p.K410_S412delFs

c.1229_1235del7

1 paper

NM_015338.6

p.K409E

c.1225A>G

2 papers

NM_015338.6

p.K409*

c.1225A>T

1 paper

NM_015338.6

p.K410N

c.1230A>C

1 paper

NM_015338.6

p.K410N

c.1230A>T

1 paper

NM_015338.6

p.R411C

c.1231C>T

2 papers

NM_015338.6

p.R411H

c.1232G>A

1 paper

NM_015338.6

p.F408fs

c.1222_1223fs

1 paper

NM_015338.6

p.S412insFs

c.1234_1235ins5