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.G646insFs

c.1936_1937insC

Surrounding Variants

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

5 papers

NM_015338.6

p.P647insFs

c.1940dupC

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.G645D

c.1934G>A

5 papers

NM_015338.6

p.G645insFs

c.1935dupT

1 paper

NM_015338.6

p.G645V

c.1934G>T

1 paper

NM_015338.6

p.G645delFs

c.1935delT

2 papers

NM_015338.6

p.P647fs

c.1939_1940fs