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.T688M

c.2063C>T

Surrounding Variants

1 paper

NM_015338.6

p.T688fs

c.2062_2063fs

1 paper

NM_015338.6

p.T688A

c.2062A>G

1 paper

NM_015338.6

p.T688fs

c.2062_2063fs

14 papers

NM_015338.6

p.C687*

c.2061T>A

1 paper

NM_015338.6

p.S689A

c.2065T>G

1 paper

NM_015338.6

p.T688delFs

c.2062_2063delAC

1 paper

NM_015338.6

p.D690_Q692delFs

c.2069_2076del8

11 papers

NM_015338.6

p.S689*

c.2066C>A

1 paper

NM_015338.6

p.S689_L691insFs

c.2067_2073dup7

10 papers

NM_015338.6

p.S689*

c.2066C>G

1 paper

NM_015338.6

p.S689L

c.2066C>T

1 paper

NM_015338.6

p.C687Y

c.2060G>A