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

3 papers

NM_015338.6

p.L896fs

c.2686_2687fs

Surrounding Variants

1 paper

NM_015338.6

p.L896*

c.2687T>A

1 paper

NM_015338.6

p.L896_I901delFs

c.2686_2701del16

1 paper

NM_015338.6

p.L896insFs

c.2687dupT

1 paper

NM_015338.6

p.S895F

c.2684C>T

3 papers

NM_015338.6

p.H897delFs

c.2689delC

1 paper

NM_015338.6

p.H897Y

c.2689C>T

2 papers

NM_015338.6

p.H897fs

c.2689_2690fs

3 papers

NM_015338.6

p.S895fs

c.2683_2684fs

1 paper

NM_015338.6

p.S895_L896delFs

c.2684_2688del5

3 papers

NM_015338.6

p.S895delFs

c.2683_2684delTC

1 paper

NM_015338.6

p.S895_L896delFs

c.2684_2687del4

1 paper

NM_015338.6

p.W898_N904delFs

c.2692_2711del20