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.V388_G390del0

c.1163_1168del6

Surrounding Variants

2 papers

NM_015338.6

p.C387*

c.1161T>A

2 papers

NM_015338.6

p.V388I

c.1162G>A

1 paper

NM_015338.6

p.V388fs

c.1162_1163fs

1 paper

NM_015338.6

p.C387insFs

c.1160dupG

1 paper

NM_015338.6

p.C387fs

c.1159_1160fs

1 paper

NM_015338.6

p.C387_V388insC

c.1159_1163ins3

2 papers

NM_015338.6

p.L386F

c.1158G>C

2 papers

NM_015338.6

p.L386F

c.1158G>T

1 paper

NM_015338.6

p.P389A

c.1165C>G

1 paper

NM_015338.6

p.L386*

c.1157T>A

2 papers

NM_015338.6

p.V388delFs

c.1162_1163delGT

1 paper

NM_015338.6

p.P389P

c.1167A>T