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.T999M

c.2996C>T

Surrounding Variants

2 papers

NM_015338.6

p.T1001insFs

c.3001dupA

1 paper

NM_015338.6

p.T1001fs

c.3001_3002fs

1 paper

NM_015338.6

p.T1001_D1004Fs

c.3002_3011delinsTAGGCFs

1 paper

NM_015338.6

p.E997Q

c.2989G>C

8 papers

NM_015338.6

p.E997*

c.2989G>T

1 paper

NM_015338.6

p.E997fs

c.2989_2990fs

3 papers

NM_015338.6

p.A1002delFs

c.3005delC

1 paper

NM_015338.6

p.G996R

c.2986G>C

1 paper

NM_015338.6

p.G996fs

c.2986_2987fs

1 paper

NM_015338.6

p.G996_E997delFs

c.2987_2990del4

4 papers

NM_015338.6

p.H995H

c.2985C>T

1 paper

NM_015338.6

p.S1003P

c.3007T>C