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

2 papers

NM_015338.6

p.E453K

c.1357G>A

Surrounding Variants

3 papers

NM_015338.6

p.E453*

c.1357G>T

2 papers

NM_015338.6

p.E453_A454delFs

c.1359_1360delGG

1 paper

NM_015338.6

p.K455_L461delFs

c.1363_1382del20

1 paper

NM_015338.6

p.E453delFs

c.1358_1359delAG

2 papers

NM_015338.6

p.G452V

c.1355G>T

1 paper

NM_015338.6

p.A454D

c.1361C>A

1 paper

NM_015338.6

p.A454V

c.1361C>T

1 paper

NM_015338.6

p.D451E

c.1353T>A

1 paper

NM_015338.6

p.D451E

c.1353T>G

3 papers

NM_015338.6

p.K455fs

c.1363_1364fs

2 papers

NM_015338.6

p.K455*

c.1363A>T

1 paper

NM_015338.6

p.K455_T456delFs

c.1365_1366delGA