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.S1143_H1144ins6

c.3427_3431ins18

Surrounding Variants

1 paper

NM_015338.6

p.Q1142R

c.3425A>G

8 papers

NM_015338.6

p.Q1142*

c.3424C>T

1 paper

NM_015338.6

p.Q1142insFs

c.3425_3426ins4

1 paper

NM_015338.6

p.G1145D

c.3434G>A

1 paper

NM_015338.6

p.G1145G

c.3435C>T

1 paper

NM_015338.6

p.K1140E

c.3418A>G

1 paper

NM_015338.6

p.K1140*

c.3418A>T

4 papers

NM_015338.6

p.S1146*

c.3437C>A

1 paper

NM_015338.6

p.S1146L

c.3437C>T

8 papers

NM_015338.6

p.T1139K

c.3416C>A

2 papers

NM_015338.6

p.T1139R

c.3416C>G

1 paper

NM_015338.6

p.L1147L

c.3439C>T