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

13 papers

NM_015338.6

p.Y700*

c.2100T>A

Surrounding Variants

11 papers

NM_015338.6

p.Y700*

c.2100T>G

5 papers

NM_015338.6

p.Y700insFs

c.2100dupT

1 paper

NM_015338.6

p.Y700C

c.2099A>G

1 paper

NM_015338.6

p.Y700_L702delFs

c.2100_2104del5

1 paper

NM_015338.6

p.P701S

c.2101C>T

5 papers

NM_015338.6

p.P701fs

c.2101_2102fs

1 paper

NM_015338.6

p.P701R

c.2102C>G

1 paper

NM_015338.6

p.Y700fs

c.2098_2099fs

1 paper

NM_015338.6

p.Y700_N703insFs

c.2099_2109dup11

1 paper

NM_015338.6

p.L702delFs

c.2104delC

1 paper

NM_015338.6

p.P699insFs

c.2096_2097insT

1 paper

NM_015338.6

p.L702fs

c.2104_2105fs