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.E381_I382ins2

c.1143_1144ins6

Surrounding Variants

1 paper

NM_015338.6

p.E381A

c.1142A>C

2 papers

NM_015338.6

p.E381*

c.1141G>T

1 paper

NM_015338.6

p.I382M

c.1146C>G

1 paper

NM_015338.6

p.S384delFs

c.1150delA

1 paper

NM_015338.6

p.A380T

c.1138G>A

2 papers

NM_015338.6

p.K383*

c.1147A>T

1 paper

NM_015338.6

p.E379_A380insFs

c.1137_1138insCA

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.S384G

c.1150A>G

1 paper

NM_015338.6

p.E378_A380delFs

c.1134_1140del7

1 paper

NM_015338.6

p.S384insFs

c.1151_1152ins5