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

5 papers

NM_015338.6

p.S1212F

c.3635C>T

Surrounding Variants

1 paper

NM_015338.6

p.S1212C

c.3635C>G

1 paper

NM_015338.6

p.L1213delFs

c.3637delC

3 papers

NM_015338.6

p.L1213fs

c.3637_3638fs

2 papers

NM_015338.6

p.L1213fs

c.3637_3638fs

2 papers

NM_015338.6

p.D1211_S1212delFs

c.3633_3636del4

1 paper

NM_015338.6

p.D1211N

c.3631G>A

2 papers

NM_015338.6

p.D1211fs

c.3631_3632fs

1 paper

NM_015338.6

p.F1210fs

c.3628_3629fs

1 paper

NM_015338.6

p.P1215S

c.3643C>T

1 paper

NM_015338.6

p.F1210_D1211del2

c.3628_3632del6

1 paper

NM_015338.6

p.S1209I

c.3626G>T

1 paper

NM_015338.6

p.F1210delFs

c.3630delT