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.N1047fs

c.3139_3140fs

Surrounding Variants

1 paper

NM_015338.6

p.N1047Y

c.3139A>T

1 paper

NM_015338.6

p.V1046M

c.3136G>A

1 paper

NM_015338.6

p.G1048_D1049delFs

c.3144_3145delTG

1 paper

NM_015338.6

p.K1045N

c.3135G>C

1 paper

NM_015338.6

p.K1045N

c.3135G>T

1 paper

NM_015338.6

p.K1045*

c.3133A>T

1 paper

NM_015338.6

p.S1044C

c.3131C>G

2 papers

NM_015338.6

p.M1050fs

c.3148_3149fs

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

1 paper

NM_015338.6

p.L1043_S1044insFs

c.3129_3130ins14