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

5 papers

NM_015338.6

p.P647insFs

c.1940dupC

Surrounding Variants

1 paper

NM_015338.6

p.G646insFs

c.1936_1937insC

147 papers

NM_015338.6

p.G646fs

c.1936_1937fs

2 papers

NM_015338.6

p.G646C

c.1936G>T

204 papers

NM_015338.6

p.G646fs

c.1936_1937fs

2 papers

NM_015338.6

p.P647fs

c.1939_1940fs

2 papers

NM_015338.6

p.P647fs

c.1939_1940fs

1 paper

NM_015338.6

p.P647_G650delFs

c.1940_1950del11

3 papers

NM_015338.6

p.G645_G646insFs

c.1935_1936insG

2 papers

NM_015338.6

p.G646delFs

c.1937delG

1 paper

NM_015338.6

p.G646_G648delFs

c.1938_1942del5

1 paper

NM_015338.6

p.P647insFs

c.1941dupG

1 paper

NM_015338.6

p.G648_G649insFs

c.1943_1946dup4