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.G1026E

c.3077G>A

Surrounding Variants

5 papers

NM_015338.6

p.G1026fs

c.3076_3077fs

2 papers

NM_015338.6

p.G1026*

c.3076G>T

6 papers

NM_015338.6

p.G1026fs

c.3076_3077fs

1 paper

NM_015338.6

p.S1027P

c.3079T>C

8 papers

NM_015338.6

p.G1026delFs

c.3077delG

1 paper

NM_015338.6

p.S1027F

c.3080C>T

1 paper

NM_015338.6

p.K1025fs

c.3073_3074fs

1 paper

NM_015338.6

p.K1025Q

c.3073A>C

1 paper

NM_015338.6

p.K1025*

c.3073A>T

2 papers

NM_015338.6

p.K1025fs

c.3073_3074fs

10 papers

NM_015338.6

p.S1028*

c.3083C>A

1 paper

NM_015338.6

p.T1024insFs

c.3072dupA