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.G364_V375delFs

c.1090_1123del34

Surrounding Variants

2 papers

NM_015338.6

p.G364delFs

c.1091delG

1 paper

NM_015338.6

p.L363fs

c.1087_1088fs

1 paper

NM_015338.6

p.L363delFs

c.1087delC

2 papers

NM_015338.6

p.G364fs

c.1090_1091fs

1 paper

NM_015338.6

p.G364_V375delFs

c.1092_1125del34

1 paper

NM_015338.6

p.K362Splc

c.1086-1G>T

2 papers

NM_015338.6

p.K362Splc

c.1086-2A>T

2 papers

NM_015338.6

p.L365_A380delFs

c.1093_1138del46

1 paper

NM_015338.6

p.L365_A380delFs

c.1094_1139del46

1 paper

NM_015338.6

p.L365*

c.1094T>A

1 paper

NM_015338.6

p.L365F

c.1095G>C

1 paper

NM_015338.6

p.L365F

c.1095G>T