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.G744R

c.2230G>C

Surrounding Variants

1 paper

NM_015338.6

p.G744R

c.2230G>A

3 papers

NM_015338.6

p.G744*

c.2230G>T

1 paper

NM_015338.6

p.G744E

c.2231G>A

1 paper

NM_015338.6

p.L743L

c.2227C>T

1 paper

NM_015338.6

p.L743delFs

c.2228delT

1 paper

NM_015338.6

p.L743_Q748delFs

c.2228_2244del17

1 paper

NM_015338.6

p.G742fs

c.2224_2225fs

1 paper

NM_015338.6

p.A746delFs

c.2238delC

2 papers

NM_015338.6

p.A746V

c.2237C>T

2 papers

NM_015338.6

p.D741V

c.2222A>T

1 paper

NM_015338.6

p.A746A

c.2238C>T

1 paper

NM_015338.6

p.D741N

c.2221G>A