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.P414_D415delFs

c.1242_1243delAG

Surrounding Variants

1 paper

NM_015338.6

p.P414fs

c.1240_1241fs

1 paper

NM_015338.6

p.P414fs

c.1240_1241fs

2 papers

NM_015338.6

p.D415V

c.1244A>T

1 paper

NM_015338.6

p.R413Q

c.1238G>A

1 paper

NM_015338.6

p.R413_P414delFs

c.1237_1241del5

2 papers

NM_015338.6

p.S412F

c.1235C>T

1 paper

NM_015338.6

p.R417_R419insFs

c.1249_1256dup8

1 paper

NM_015338.6

p.L416L

c.1248C>T

1 paper

NM_015338.6

p.S412insFs

c.1234_1235ins5

1 paper

NM_015338.6

p.S412_P414delFs

c.1236_1240del5

44 papers

NM_015338.6

p.R417*

c.1249C>T

2 papers

NM_015338.6

p.R411H

c.1232G>A