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

9 papers

NM_015338.6

p.W1065*

c.3194G>A

Surrounding Variants

9 papers

NM_015338.6

p.W1065*

c.3195G>A

1 paper

NM_015338.6

p.S1064fs

c.3190_3191fs

1 paper

NM_015338.6

p.S1064G

c.3190A>G

1 paper

NM_015338.6

p.S1067A

c.3199T>G

2 papers

NM_015338.6

p.S1067insFs

c.3200_3201insT

1 paper

NM_015338.6

p.Q1063insFs

c.3188dupA

1 paper

NM_015338.6

p.Q1063fs

c.3187_3188fs

1 paper

NM_015338.6

p.Q1063E

c.3187C>G

23 papers

NM_015338.6

p.Q1063*

c.3187C>T

1 paper

NM_015338.6

p.S1064delFs

c.3190_3191delAG

1 paper

NM_015338.6

p.R1068fs

c.3202_3203fs

40 papers

NM_015338.6

p.R1068*

c.3202C>T