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.G587_T590delFs

c.1761_1768del8

Surrounding Variants

1 paper

NM_015338.6

p.G587D

c.1760G>A

1 paper

NM_015338.6

p.G587C

c.1759G>T

2 papers

NM_015338.6

p.G587fs

c.1759_1760fs

1 paper

NM_015338.6

p.Q588_T590delFs

c.1764_1768del5

1 paper

NM_015338.6

p.G587insFs

c.1760dupG

1 paper

NM_015338.6

p.K586N

c.1758A>C

1 paper

NM_015338.6

p.K586N

c.1758A>T

3 papers

NM_015338.6

p.Q588fs

c.1762_1763fs

35 papers

NM_015338.6

p.Q588*

c.1762C>T

2 papers

NM_015338.6

p.Q588R

c.1763A>G

1 paper

NM_015338.6

p.K586_P589delFs

c.1758_1765del8

3 papers

NM_015338.6

p.K586fs

c.1756_1757fs