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.G398S

c.1192G>A

Surrounding Variants

5 papers

NM_015338.6

p.R397H

c.1190G>A

1 paper

NM_015338.6

p.R397C

c.1189C>T

1 paper

NM_015338.6

p.Q396fs

c.1186_1187fs

8 papers

NM_015338.6

p.Q396*

c.1186C>T

1 paper

NM_015338.6

p.I395M

c.1185A>G

1 paper

NM_015338.6

p.A400V

c.1199C>T

1 paper

NM_015338.6

p.T401P

c.1201A>C

1 paper

NM_015338.6

p.T401I

c.1202C>T

2 papers

NM_015338.6

p.R394H

c.1181G>A

1 paper

NM_015338.6

p.R402fs

c.1204_1205fs

3 papers

NM_015338.6

p.R394C

c.1180C>T

2 papers

NM_015338.6

p.R402*

c.1204C>T