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.K383*

c.1147A>T

Surrounding Variants

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.S384G

c.1150A>G

1 paper

NM_015338.6

p.S384insFs

c.1151_1152ins5

1 paper

NM_015338.6

p.E381_I382ins2

c.1143_1144ins6

1 paper

NM_015338.6

p.E381A

c.1142A>C

1 paper

NM_015338.6

p.G385S

c.1153G>A

2 papers

NM_015338.6

p.E381*

c.1141G>T

1 paper

NM_015338.6

p.G385D

c.1154G>A

1 paper

NM_015338.6

p.G385insFs

c.1154_1155ins5

5 papers

NM_015338.6

p.G385insFs

c.1154_1155ins5

1 paper

NM_015338.6

p.L386_V388del0

c.1156_1164del9