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.Q708insFs

c.2122_2123insC

Surrounding Variants

1 paper

NM_015338.6

p.T707P

c.2119A>C

2 papers

NM_015338.6

p.T707fs

c.2119_2120fs

1 paper

NM_015338.6

p.T707insFs

c.2119dupA

1 paper

NM_015338.6

p.H706_T707insFs

c.2118_2119insAC

1 paper

NM_015338.6

p.T707_G710delFs

c.2120_2130del11

1 paper

NM_015338.6

p.H706insFs

c.2118dupT

5 papers

NM_015338.6

p.Q708fs

c.2122_2123fs

1 paper

NM_015338.6

p.H706fs

c.2116_2117fs

17 papers

NM_015338.6

p.Q708*

c.2122C>T

1 paper

NM_015338.6

p.Q708fs

c.2122_2123fs

1 paper

NM_015338.6

p.H706_T707delFs

c.2118_2119delTA

1 paper

NM_015338.6

p.Q708P

c.2123A>C