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

3 papers

NM_015338.6

p.Q1251*

c.3751C>T

Surrounding Variants

1 paper

NM_015338.6

p.Q1251fs

c.3751_3752fs

1 paper

NM_015338.6

p.Q1251_G1260delFs

c.3753_3780del28

1 paper

NM_015338.6

p.D1252_S1262delFs

c.3754_3785del32

1 paper

NM_015338.6

p.Q1251_D1265delFs

c.3752_3794del43

1 paper

NM_015338.6

p.D1252insFs

c.3754dupG

1 paper

NM_015338.6

p.Q1251_D1252del2

c.3751_3755del6

1 paper

NM_015338.6

p.D1252_G1260delFs

c.3756_3780del25

1 paper

NM_015338.6

p.Q1251_S1262del0

c.3751_3786del36

1 paper

NM_015338.6

p.D1252_G1264delFs

c.3755_3791del37

1 paper

NM_015338.6

p.Q1251_G1264delFs

c.3751_3790del40

1 paper

NM_015338.6

p.Q1251_G1260del0

c.3753_3779del27

1 paper

NM_015338.6

p.S1250*

c.3749C>A