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

2 papers

NM_015338.6

p.K1031_K1034delFs

c.3091_3101del11

Surrounding Variants

2 papers

NM_015338.6

p.K1031fs

c.3091_3092fs

1 paper

NM_015338.6

p.K1031*

c.3091A>T

1 paper

NM_015338.6

p.D1030N

c.3088G>A

1 paper

NM_015338.6

p.V1029M

c.3085G>A

10 papers

NM_015338.6

p.S1028*

c.3083C>A

1 paper

NM_015338.6

p.V1029insFs

c.3085dupG

6 papers

NM_015338.6

p.S1028L

c.3083C>T

1 paper

NM_015338.6

p.E1033*

c.3097G>T

8 papers

NM_015338.6

p.E1033V

c.3098A>T

1 paper

NM_015338.6

p.K1034*

c.3100A>T

1 paper

NM_015338.6

p.S1027F

c.3080C>T

1 paper

NM_015338.6

p.S1027P

c.3079T>C