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.E773K

c.2317G>A

Surrounding Variants

7 papers

NM_015338.6

p.E773*

c.2317G>T

1 paper

NM_015338.6

p.R774fs

c.2320_2321fs

1 paper

NM_015338.6

p.R774G

c.2320A>G

5 papers

NM_015338.6

p.R774*

c.2320A>T

1 paper

NM_015338.6

p.R774fs

c.2320_2321fs

1 paper

NM_015338.6

p.A772T

c.2314G>A

2 papers

NM_015338.6

p.A772P

c.2314G>C

2 papers

NM_015338.6

p.A772fs

c.2314_2315fs

1 paper

NM_015338.6

p.V771_E773Fs

c.2313_2318delinsTTGGFs

1 paper

NM_015338.6

p.R774T

c.2321G>C

1 paper

NM_015338.6

p.R774delFs

c.2322delA

1 paper

NM_015338.6

p.R774_L775delFs

c.2322_2323delAT