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.T957fs

c.2869_2870fs

Surrounding Variants

1 paper

NM_015338.6

p.L956_T957insFs

c.2868_2869insA

3 papers

NM_015338.6

p.L956fs

c.2866_2867fs

3 papers

NM_015338.6

p.L956_T957insFs

c.2868_2869insT

1 paper

NM_015338.6

p.L956F

c.2866C>T

1 paper

NM_015338.6

p.L956Fs

c.2866_2868delinsGFs

7 papers

NM_015338.6

p.S958*

c.2873C>A

6 papers

NM_015338.6

p.S958*

c.2873C>G

1 paper

NM_015338.6

p.S958L

c.2873C>T

1 paper

NM_015338.6

p.S958_W960delFs

c.2874_2878del5

1 paper

NM_015338.6

p.L959_W960delFs

c.2877_2878delCT

1 paper

NM_015338.6

p.L959fs

c.2875_2876fs

1 paper

NM_015338.6

p.D954E

c.2862C>A