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.L448P

c.1343T>C

Surrounding Variants

2 papers

NM_015338.6

p.Y449C

c.1346A>G

4 papers

NM_015338.6

p.Y449*

c.1347C>A

4 papers

NM_015338.6

p.Y449*

c.1347C>G

1 paper

NM_015338.6

p.K450*

c.1348A>T

1 paper

NM_015338.6

p.V446I

c.1336G>A

1 paper

NM_015338.6

p.D451E

c.1353T>A

1 paper

NM_015338.6

p.D451E

c.1353T>G

9 papers

NM_015338.6

p.S444*

c.1331C>A

9 papers

NM_015338.6

p.S444*

c.1331C>G

2 papers

NM_015338.6

p.G452V

c.1355G>T

1 paper

NM_015338.6

p.E453delFs

c.1358_1359delAG

1 paper

NM_015338.6

p.S444T

c.1330T>A