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

1–12 of 4084 variants

311 papers

NM_015338.6

p.G645insFs

c.1934dupG

204 papers

NM_015338.6

p.G646fs

c.1936_1937fs

182 papers

NM_015338.6

p.R693*

c.2077C>T

147 papers

NM_015338.6

p.G646fs

c.1936_1937fs

142 papers

NM_015338.6

p.Y591*

c.1773C>G

140 papers

NM_015338.6

p.Y591*

c.1773C>A

134 papers

NM_015338.6

p.H630_A637delFs

c.1888_1910del23

83 papers

NM_015338.6

p.E635fs

c.1903_1904fs

67 papers

NM_015338.6

p.E635fs

c.1903_1904fs

63 papers

NM_015338.6

p.G642fs

c.1924_1925fs

62 papers

NM_015338.6

p.L775*

c.2324T>A

62 papers

NM_015338.6

p.L775*

c.2324T>G