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

9 papers

NM_015338.6

p.R606W

c.1816C>T

Surrounding Variants

1 paper

NM_015338.6

p.G607insFs

c.1820dupG

1 paper

NM_015338.6

p.R606fs

c.1816_1817fs

1 paper

NM_015338.6

p.G607delFs

c.1820delG

1 paper

NM_015338.6

p.G607delFs

c.1819_1820delGG

8 papers

NM_015338.6

p.C605*

c.1815C>A

8 papers

NM_015338.6

p.R606Q

c.1817G>A

1 paper

NM_015338.6

p.R606L

c.1817G>T

2 papers

NM_015338.6

p.C605Y

c.1814G>A

2 papers

NM_015338.6

p.C605_R606insFs

c.1815_1816insC

1 paper

NM_015338.6

p.R606R

c.1818G>T

1 paper

NM_015338.6

p.G607C

c.1819G>T

2 papers

NM_015338.6

p.G607fs

c.1819_1820fs