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.Q377delFs

c.1130delA

Surrounding Variants

6 papers

NM_015338.6

p.Q377*

c.1129C>T

3 papers

NM_015338.6

p.E378*

c.1132G>T

1 paper

NM_015338.6

p.E378_A380delFs

c.1134_1140del7

1 paper

NM_015338.6

p.V375delFs

c.1125delG

1 paper

NM_015338.6

p.V375_I382delFs

c.1125_1146del22

1 paper

NM_015338.6

p.V375M

c.1123G>A

1 paper

NM_015338.6

p.E379K

c.1135G>A

2 papers

NM_015338.6

p.E379*

c.1135G>T

1 paper

NM_015338.6

p.V375_E381delFs

c.1124_1142del19

1 paper

NM_015338.6

p.N374_V375delFs

c.1122_1125del4

1 paper

NM_015338.6

p.E379_A380insFs

c.1137_1138insCA

1 paper

NM_015338.6

p.N374D

c.1120A>G