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

4 papers

NM_015338.6

p.E719fs

c.2155_2156fs

Surrounding Variants

1 paper

NM_015338.6

p.E719insFs

c.2156dupA

1 paper

NM_015338.6

p.E719*

c.2155G>T

1 paper

NM_015338.6

p.R718_E719insFs

c.2154_2155insT

1 paper

NM_015338.6

p.E719delFs

c.2157delG

4 papers

NM_015338.6

p.R718*

c.2152A>T

1 paper

NM_015338.6

p.R718fs

c.2152_2153fs

4 papers

NM_015338.6

p.D720fs

c.2158_2159fs

1 paper

NM_015338.6

p.D720fs

c.2158_2159fs

1 paper

NM_015338.6

p.D720_L721insFs

c.2160_2161insTC

1 paper

NM_015338.6

p.D720G

c.2159A>G

4 papers

NM_015338.6

p.D720delFs

c.2160delC

1 paper

NM_015338.6

p.R717S

c.2151G>C