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

2 papers

NM_015338.6

p.C1070*

c.3210T>A

Surrounding Variants

2 papers

NM_015338.6

p.A1071V

c.3212C>T

2 papers

NM_015338.6

p.V1069I

c.3205G>A

1 paper

NM_015338.6

p.V1072D

c.3215T>A

1 paper

NM_015338.6

p.V1072A

c.3215T>C

6 papers

NM_015338.6

p.R1073C

c.3217C>T

2 papers

NM_015338.6

p.R1068Q

c.3203G>A

1 paper

NM_015338.6

p.R1068fs

c.3202_3203fs

40 papers

NM_015338.6

p.R1068*

c.3202C>T

2 papers

NM_015338.6

p.R1073H

c.3218G>A

1 paper

NM_015338.6

p.R1073L

c.3218G>T

2 papers

NM_015338.6

p.S1067insFs

c.3200_3201insT

3 papers

NM_015338.6

p.Q1074*

c.3220C>T