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.Q1074L

c.3221A>T

Surrounding Variants

3 papers

NM_015338.6

p.Q1074*

c.3220C>T

1 paper

NM_015338.6

p.K1075Q

c.3223A>C

1 paper

NM_015338.6

p.K1075*

c.3223A>T

2 papers

NM_015338.6

p.R1073H

c.3218G>A

1 paper

NM_015338.6

p.R1073L

c.3218G>T

6 papers

NM_015338.6

p.R1073C

c.3217C>T

1 paper

NM_015338.6

p.V1072D

c.3215T>A

1 paper

NM_015338.6

p.V1072A

c.3215T>C

1 paper

NM_015338.6

p.P1077insFs

c.3230_3231ins4

2 papers

NM_015338.6

p.A1071V

c.3212C>T

1 paper

NM_015338.6

p.D1078fs

c.3232_3233fs

1 paper

NM_015338.6

p.D1078Y

c.3232G>T