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.S770delFs

c.2310delA

Surrounding Variants

9 papers

NM_015338.6

p.S770*

c.2309C>A

11 papers

NM_015338.6

p.S770*

c.2309C>G

1 paper

NM_015338.6

p.S770L

c.2309C>T

1 paper

NM_015338.6

p.S770P

c.2308T>C

2 papers

NM_015338.6

p.S770fs

c.2308_2309fs

1 paper

NM_015338.6

p.S770delFs

c.2309delC

1 paper

NM_015338.6

p.T769insFs

c.2305_2306ins29

3 papers

NM_015338.6

p.T769fs

c.2305_2306fs

2 papers

NM_015338.6

p.T769A

c.2305A>G

1 paper

NM_015338.6

p.T769delFs

c.2307delC

3 papers

NM_015338.6

p.T769fs

c.2305_2306fs

1 paper

NM_015338.6

p.T769_S770delFs

c.2306_2309del4