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.S1250_G1264del0

c.3748_3792del45

Surrounding Variants

1 paper

NM_015338.6

p.S1250_L1266delFs

c.3750_3796del47

1 paper

NM_015338.6

p.S1250insFs

c.3749_3750insC

1 paper

NM_015338.6

p.S1250_K1261del0

c.3749_3781del33

1 paper

NM_015338.6

p.S1250_K1261delFs

c.3749_3782del34

1 paper

NM_015338.6

p.S1250_S1262delFs

c.3749_3785del37

1 paper

NM_015338.6

p.M1249_K1261delFs

c.3747_3781del35

1 paper

NM_015338.6

p.M1249_G1264delFs

c.3747_3792del46

1 paper

NM_015338.6

p.M1249L

c.3745A>C

16 papers

NM_015338.6

p.M1249V

c.3745A>G

1 paper

NM_015338.6

p.M1249L

c.3745A>T

1 paper

NM_015338.6

p.S1250*

c.3749C>A

1 paper

NM_015338.6

p.S1250*

c.3749C>G