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.P684S

c.2050C>T

Surrounding Variants

1 paper

NM_015338.6

p.P684fs

c.2050_2051fs

1 paper

NM_015338.6

p.T683N

c.2048C>A

2 papers

NM_015338.6

p.P684insFs

c.2051dupC

2 papers

NM_015338.6

p.T683A

c.2047A>G

1 paper

NM_015338.6

p.P684delFs

c.2051delC

1 paper

NM_015338.6

p.T683fs

c.2047_2048fs

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

5 papers

NM_015338.6

p.G685*

c.2053G>T

1 paper

NM_015338.6

p.G685E

c.2054G>A

1 paper

NM_015338.6

p.K686insFs

c.2056_2057dupAA