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

2 papers

NM_015338.6

p.H630fs

c.1888_1889fs

Surrounding Variants

28 papers

NM_015338.6

p.H630fs

c.1888_1889fs

2 papers

NM_015338.6

p.H630Y

c.1888C>T

2 papers

NM_015338.6

p.H630R

c.1889A>G

2 papers

NM_015338.6

p.H631_T638del8

c.1891_1913del24

1 paper

NM_015338.6

p.H630_G643delins

c.1889_1927delinsGACCAC

1 paper

NM_015338.6

p.H630_H631delFs

c.1889_1893del5

1 paper

NM_015338.6

p.H630_A636delFs

c.1888_1907del20

1 paper

NM_015338.6

p.H630_A637delFs

c.1888_1909del22

134 papers

NM_015338.6

p.H630_A637delFs

c.1888_1910del23

7 papers

NM_015338.6

p.H630_A637del8

c.1888_1910del24

1 paper

NM_015338.6

p.H631_T639del9

c.1891_1916del27

1 paper

NM_015338.6

p.G629_H630delFs

c.1887_1888delTC