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.R693G

c.2077C>G

Surrounding Variants

1 paper

NM_015338.6

p.R693fs

c.2077_2078fs

2 papers

NM_015338.6

p.R693insFs

c.2077_2078insT

182 papers

NM_015338.6

p.R693*

c.2077C>T

1 paper

NM_015338.6

p.R693fs

c.2077_2078fs

1 paper

NM_015338.6

p.R693Q

c.2078G>A

1 paper

NM_015338.6

p.T694_Y700insFs

c.2081_2099dup19

1 paper

NM_015338.6

p.Q695delFs

c.2083_2084delCA

1 paper

NM_015338.6

p.T694fs

c.2080_2081fs

1 paper

NM_015338.6

p.T694_P698delFs

c.2082_2092del11

2 papers

NM_015338.6

p.Q692fs

c.2074_2075fs

15 papers

NM_015338.6

p.Q692*

c.2074C>T

1 paper

NM_015338.6

p.Q692_T694delFs

c.2075_2082del8