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.T601Fs

c.1801_1803delinsCAFs

Surrounding Variants

1 paper

NM_015338.6

p.T601fs

c.1801_1802fs

1 paper

NM_015338.6

p.T601fs

c.1801_1802fs

1 paper

NM_015338.6

p.T601delFs

c.1803delG

2 papers

NM_015338.6

p.T600I

c.1799C>T

1 paper

NM_015338.6

p.T601_E602delins

c.1803_1804delinsAT

1 paper

NM_015338.6

p.T600_T601insFs

c.1799_1803dup5

1 paper

NM_015338.6

p.T600P

c.1798A>C

2 papers

NM_015338.6

p.T600fs

c.1798_1799fs

13 papers

NM_015338.6

p.E602*

c.1804G>T

1 paper

NM_015338.6

p.E602fs

c.1804_1805fs

2 papers

NM_015338.6

p.P599L

c.1796C>T

1 paper

NM_015338.6

p.S603fs

c.1807_1808fs