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

142 papers

NM_015338.6

p.Y591*

c.1773C>G

Surrounding Variants

140 papers

NM_015338.6

p.Y591*

c.1773C>A

1 paper

NM_015338.6

p.Y591Fs

c.1773delinsACTFs

1 paper

NM_015338.6

p.Y591Y

c.1773C>T

1 paper

NM_015338.6

p.Y591insFs

c.1772_1773ins4

1 paper

NM_015338.6

p.Y591C

c.1772A>G

1 paper

NM_015338.6

p.Y591_Q592delFs

c.1773_1774delCC

1 paper

NM_015338.6

p.Q592fs

c.1774_1775fs

33 papers

NM_015338.6

p.Q592*

c.1774C>T

1 paper

NM_015338.6

p.Q592R

c.1775A>G

2 papers

NM_015338.6

p.Y591N

c.1771T>A

6 papers

NM_015338.6

p.Y591D

c.1771T>G

50 papers

NM_015338.6

p.Y591insFs

c.1772dupA