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

5 papers

NM_015338.6

p.G685*

c.2053G>T

Surrounding Variants

2 papers

NM_015338.6

p.G685R

c.2053G>A

2 papers

NM_015338.6

p.G685R

c.2053G>C

1 paper

NM_015338.6

p.G685fs

c.2053_2054fs

1 paper

NM_015338.6

p.G685E

c.2054G>A

1 paper

NM_015338.6

p.K686insFs

c.2056_2057dupAA

1 paper

NM_015338.6

p.G685G

c.2055A>G

2 papers

NM_015338.6

p.K686_C687del2

c.2056_2060del6

7 papers

NM_015338.6

p.K686fs

c.2056_2057fs

1 paper

NM_015338.6

p.K686E

c.2056A>G

4 papers

NM_015338.6

p.K686*

c.2056A>T

1 paper

NM_015338.6

p.K686delFs

c.2057_2058delAG

1 paper

NM_015338.6

p.P684fs

c.2050_2051fs