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.T613insFs

c.1838dupC

Surrounding Variants

2 papers

NM_015338.6

p.T613fs

c.1837_1838fs

1 paper

NM_015338.6

p.R612S

c.1836G>C

1 paper

NM_015338.6

p.R612delins

c.1836delinsGACC

1 paper

NM_015338.6

p.R612S

c.1836G>T

1 paper

NM_015338.6

p.R612M

c.1835G>T

2 papers

NM_015338.6

p.L614F

c.1840C>T

1 paper

NM_015338.6

p.L614fs

c.1840_1841fs

1 paper

NM_015338.6

p.L614_K618delins

c.1840_1852delinsT

1 paper

NM_015338.6

p.L614_G626delFs

c.1841_1878del38

1 paper

NM_015338.6

p.T613_G626delFs

c.1837_1877del41

1 paper

NM_015338.6

p.R612_R625del14

c.1834_1874del42

1 paper

NM_015338.6

p.A615delFs

c.1843_1844delGC