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.R573_I574Splc

c.1720-1G>A

Surrounding Variants

4 papers

NM_015338.6

p.R573_I574Splc

c.1720-1G>C

4 papers

NM_015338.6

p.R573_I574Splc

c.1720-1G>T

1 paper

NM_015338.6

p.R573_I574Splc

c.1720-2A>C

10 papers

NM_015338.6

p.R573_I574Splc

c.1720-2A>G

1 paper

NM_015338.6

p.R573_I574Splc

c.1720-2A>T

2 papers

NM_015338.6

p.I574fs

c.1720_1721fs

9 papers

NM_015338.6

p.Q575*

c.1723C>T

1 paper

NM_015338.6

p.Q575Q

c.1725A>G

1 paper

NM_015338.6

p.L576delFs

c.1726delC

1 paper

NM_015338.6

p.L576fs

c.1726_1727fs

1 paper

NM_015338.6

p.L576P

c.1727T>C

1 paper

NM_015338.6

p.L576R

c.1727T>G