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.L765fs

c.2293_2294fs

Surrounding Variants

1 paper

NM_015338.6

p.L765_S770delFs

c.2295_2308del14

1 paper

NM_015338.6

p.L765delFs

c.2295delG

1 paper

NM_015338.6

p.L764_L765insFs

c.2292_2293insA

3 papers

NM_015338.6

p.L764fs

c.2290_2291fs

1 paper

NM_015338.6

p.L764insFs

c.2291dupT

8 papers

NM_015338.6

p.L764fs

c.2290_2291fs

1 paper

NM_015338.6

p.S766P

c.2296T>C

1 paper

NM_015338.6

p.S766delFs

c.2298delC

1 paper

NM_015338.6

p.L764delFs

c.2290_2291delCT

1 paper

NM_015338.6

p.P763S

c.2287C>T

2 papers

NM_015338.6

p.S767fs

c.2299_2300fs

1 paper

NM_015338.6

p.S767F

c.2300C>T