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.L145P

c.434T>C

Surrounding Variants

1 paper

NM_015338.6

p.L145_S146delFs

c.435_436delTT

1 paper

NM_015338.6

p.L145del1

c.433_434delCTT

1 paper

NM_015338.6

p.R143Q

c.428G>A

2 papers

NM_015338.6

p.R143*

c.427C>T

1 paper

NM_015338.6

p.N147K

c.441T>A

1 paper

NM_015338.6

p.N147K

c.441T>G

1 paper

NM_015338.6

p.P148fs

c.442_443fs

1 paper

NM_015338.6

p.P148A

c.442C>G

1 paper

NM_015338.6

p.S142I

c.425G>T

1 paper

NM_015338.6

p.R149G

c.445A>G

1 paper

NM_015338.6

p.Q141H

c.423G>C

1 paper

NM_015338.6

p.Q141H

c.423G>T