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

4 papers

NM_015338.6

p.E914*

c.2740G>T

Surrounding Variants

1 paper

NM_015338.6

p.S915Fs

c.2743_2744delinsCCCCCAFs

1 paper

NM_015338.6

p.S915fs

c.2743_2744fs

1 paper

NM_015338.6

p.K912_P913insTTG

c.2734_2738ins9

3 papers

NM_015338.6

p.K912*

c.2734A>T

1 paper

NM_015338.6

p.R916*

c.2746A>T

1 paper

NM_015338.6

p.K912delFs

c.2736delA

4 papers

NM_015338.6

p.E917*

c.2749G>T

2 papers

NM_015338.6

p.Q910fs

c.2728_2729fs

1 paper

NM_015338.6

p.H918fs

c.2752_2753fs

6 papers

NM_015338.6

p.Q910*

c.2728C>T

1 paper

NM_015338.6

p.Q910fs

c.2728_2729fs

1 paper

NM_015338.6

p.Q910insFs

c.2728_2729insC