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.I641L

c.1921A>C

Surrounding Variants

5 papers

NM_015338.6

p.I641fs

c.1921_1922fs

1 paper

NM_015338.6

p.I641fs

c.1921_1922fs

1 paper

NM_015338.6

p.I641_G643Fs

c.1921_1927delinsTCFs

1 paper

NM_015338.6

p.I641_G643Fs

c.1921_1929delinsGTFs

1 paper

NM_015338.6

p.I641delFs

c.1921delA

1 paper

NM_015338.6

p.I641_G643delFs

c.1921_1928del8

1 paper

NM_015338.6

p.I641T

c.1922T>C

1 paper

NM_015338.6

p.I641S

c.1922T>G

1 paper

NM_015338.6

p.I641insFs

c.1922_1923insA

1 paper

NM_015338.6

p.I641_G643delFs

c.1923_1927del5

1 paper

NM_015338.6

p.I641_G643del0

c.1923_1928del6

3 papers

NM_015338.6

p.I641_P647delFs

c.1923_1939del17