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.R1247_K1261delFs

c.3739_3782del44

Surrounding Variants

1 paper

NM_015338.6

p.R1247_S1262delFs

c.3740_3786del47

7 papers

NM_015338.6

p.R1247C

c.3739C>T

1 paper

NM_015338.6

p.R1247_K1261delFs

c.3740_3782del43

1 paper

NM_015338.6

p.V1246_N1254delFs

c.3738_3762del25

1 paper

NM_015338.6

p.V1246_K1261del0

c.3737_3781del45

1 paper

NM_015338.6

p.M1249_A1257del0

c.3745_3771del27

1 paper

NM_015338.6

p.R1247_G1260delFs

c.3741_3780del40

1 paper

NM_015338.6

p.A1248_A1258delFs

c.3742_3772del31

1 paper

NM_015338.6

p.A1248_K1261delFs

c.3743_3783del41

1 paper

NM_015338.6

p.A1248_S1262del0

c.3742_3786del45

1 paper

NM_015338.6

p.V1246_S1262delFs

c.3736_3784del49

1 paper

NM_015338.6

p.A1248_G1260delFs

c.3743_3780del38