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.R419_A420insFs

c.1257_1258insA

Surrounding Variants

1 paper

NM_015338.6

p.R419K

c.1256G>A

2 papers

NM_015338.6

p.R419*

c.1255A>T

1 paper

NM_015338.6

p.R421*

c.1261A>T

1 paper

NM_015338.6

p.R417Q

c.1250G>A

1 paper

NM_015338.6

p.T418delFs

c.1252delA

1 paper

NM_015338.6

p.R417_T418delFs

c.1251_1252delAA

44 papers

NM_015338.6

p.R417*

c.1249C>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.R422_N423delFs

c.1266_1267delGA

1 paper

NM_015338.6

p.N423fs

c.1267_1268fs

3 papers

NM_015338.6

p.N423insFs

c.1269dupT