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.M1050fs

c.3148_3149fs

Surrounding Variants

1 paper

NM_015338.6

p.M1050L

c.3148A>C

1 paper

NM_015338.6

p.M1050V

c.3148A>G

1 paper

NM_015338.6

p.M1050L

c.3148A>T

2 papers

NM_015338.6

p.M1050insFs

c.3150dupG

1 paper

NM_015338.6

p.R1051_V1053delFs

c.3151_3157del7

1 paper

NM_015338.6

p.M1050_R1055delFs

c.3150_3163del14

5 papers

NM_015338.6

p.R1051C

c.3151C>T

2 papers

NM_015338.6

p.R1051fs

c.3151_3152fs

1 paper

NM_015338.6

p.G1048_D1049delFs

c.3144_3145delTG

1 paper

NM_015338.6

p.N1047Y

c.3139A>T

1 paper

NM_015338.6

p.N1047fs

c.3139_3140fs

1 paper

NM_015338.6

p.V1053L

c.3157G>C