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

18 papers

NM_015338.6

p.Q695*

c.2083C>T

Surrounding Variants

3 papers

NM_015338.6

p.Q695insFs

c.2084dupA

5 papers

NM_015338.6

p.Q695fs

c.2083_2084fs

1 paper

NM_015338.6

p.Q695delFs

c.2084delA

2 papers

NM_015338.6

p.Q695fs

c.2083_2084fs

1 paper

NM_015338.6

p.Q695insFs

c.2084_2085insC

1 paper

NM_001363734.1

p.Q634_L641delFs

c.1900_1922del23

1 paper

NM_015338.6

p.Q695H

c.2085A>C

1 paper

NM_015338.6

p.Q695H

c.2085A>T

1 paper

NM_015338.6

p.T694fs

c.2080_2081fs

1 paper

NM_015338.6

p.T694_P698delFs

c.2082_2092del11

3 papers

NM_015338.6

p.L696fs

c.2086_2087fs

1 paper

NM_015338.6

p.L696_Y700delFs

c.2087_2100del14