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.D756fs

c.2266_2267fs

Surrounding Variants

1 paper

NM_015338.6

p.D756fs

c.2266_2267fs

2 papers

NM_015338.6

p.D756A

c.2267A>C

1 paper

NM_015338.6

p.Q757delFs

c.2269delC

2 papers

NM_015338.6

p.Q757_P758delFs

c.2271_2274del4

1 paper

NM_015338.6

p.Q757_A761delFs

c.2270_2283del14

1 paper

NM_015338.6

p.D756D

c.2268C>T

4 papers

NM_015338.6

p.Q757fs

c.2269_2270fs

17 papers

NM_015338.6

p.Q757*

c.2269C>T

1 paper

NM_015338.6

p.Q757delFs

c.2270delA

1 paper

NM_015338.6

p.Q757fs

c.2269_2270fs

1 paper

NM_015338.6

p.G755fs

c.2263_2264fs

1 paper

NM_015338.6

p.D756_A761delFs

c.2266_2281del16