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.L1116*

c.3347T>A

Surrounding Variants

1 paper

NM_015338.6

p.L1116F

c.3348G>C

1 paper

NM_015338.6

p.L1116F

c.3348G>T

1 paper

NM_015338.6

p.P1117_L1118insT

c.3349_3353ins3

1 paper

NM_015338.6

p.P1117R

c.3350C>G

1 paper

NM_015338.6

p.S1115T

c.3344G>C

1 paper

NM_015338.6

p.S1115delFs

c.3344delG

1 paper

NM_015338.6

p.P1117P

c.3351C>A

1 paper

NM_015338.6

p.Q1113*

c.3337C>T

1 paper

NM_015338.6

p.K1120*

c.3358A>T

1 paper

NM_015338.6

p.K1120M

c.3359A>T

1 paper

NM_015338.6

p.L1122_A1125del4

c.3364_3374del12

1 paper

NM_015338.6

p.Q1110L

c.3329A>T