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

62 papers

NM_015338.6

p.L775*

c.2324T>A

Surrounding Variants

62 papers

NM_015338.6

p.L775*

c.2324T>G

1 paper

NM_015338.6

p.L775insFs

c.2324_2325ins8

1 paper

NM_015338.6

p.L775I

c.2323T>A

7 papers

NM_015338.6

p.L775fs

c.2323_2324fs

3 papers

NM_015338.6

p.L775fs

c.2323_2324fs

17 papers

NM_015338.6

p.L775delFs

c.2324delT

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

1 paper

NM_015338.6

p.L775_H782delFs

c.2324_2346del23

1 paper

NM_015338.6

p.R774fs

c.2320_2321fs

1 paper

NM_015338.6

p.R774G

c.2320A>G