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

4 papers

NM_015338.6

p.C1204W

c.3612C>G

Surrounding Variants

1 paper

NM_015338.6

p.C1204*

c.3612C>A

1 paper

NM_015338.6

p.K1205*

c.3613A>T

1 paper

NM_015338.6

p.A1206T

c.3616G>A

1 paper

NM_015338.6

p.A1206V

c.3617C>T

1 paper

NM_015338.6

p.K1202*

c.3604A>T

2 papers

NM_015338.6

p.Q1201*

c.3601C>T

1 paper

NM_015338.6

p.K1202delFs

c.3605delA

1 paper

NM_015338.6

p.P1200S

c.3598C>T

1 paper

NM_015338.6

p.S1209I

c.3626G>T

1 paper

NM_015338.6

p.F1210delFs

c.3630delT

1 paper

NM_015338.6

p.Q1201delFs

c.3601delC

1 paper

NM_015338.6

p.F1210_D1211del2

c.3628_3632del6