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.L762F

c.2286G>C

Surrounding Variants

2 papers

NM_015338.6

p.L764insFs

c.2290dupC

1 paper

NM_015338.6

p.L762F

c.2286G>T

12 papers

NM_015338.6

p.L764delFs

c.2290delC

1 paper

NM_015338.6

p.P763S

c.2287C>T

5 papers

NM_015338.6

p.L762*

c.2285T>A

1 paper

NM_015338.6

p.L762insFs

c.2286dupG

1 paper

NM_015338.6

p.L762fs

c.2284_2285fs

3 papers

NM_015338.6

p.L762fs

c.2284_2285fs

1 paper

NM_015338.6

p.L762insFs

c.2285dupT

1 paper

NM_015338.6

p.L764delFs

c.2290_2291delCT

1 paper

NM_015338.6

p.A761_L762Fs

c.2283_2284delinsAFs

1 paper

NM_015338.6

p.L762delFs

c.2285delT