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.I1191fs

c.3571_3572fs

Surrounding Variants

1 paper

NM_015338.6

p.R1190K

c.3569G>A

1 paper

NM_015338.6

p.R1190_E1192delFs

c.3570_3574del5

3 papers

NM_015338.6

p.E1192*

c.3574G>T

1 paper

NM_015338.6

p.A1193V

c.3578C>T

1 paper

NM_015338.6

p.Q1195insFs

c.3583dupC

2 papers

NM_015338.6

p.T1194I

c.3581C>T

1 paper

NM_015338.6

p.G1187V

c.3560G>T

5 papers

NM_015338.6

p.Q1195*

c.3583C>T

1 paper

NM_015338.6

p.Q1195fs

c.3583_3584fs

1 paper

NM_015338.6

p.T1186T

c.3558T>C

1 paper

NM_015338.6

p.T1186P

c.3556A>C

1 paper

NM_015338.6

p.T1186fs

c.3556_3557fs