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.L992fs

c.2974_2975fs

Surrounding Variants

1 paper

NM_015338.6

p.L992fs

c.2974_2975fs

1 paper

NM_015338.6

p.L992delFs

c.2975_2976delTG

1 paper

NM_015338.6

p.P994_S998delFs

c.2982_2994del13

1 paper

NM_015338.6

p.L992_P994del3

c.2974_2981del9

1 paper

NM_015338.6

p.L992P

c.2975T>C

1 paper

NM_015338.6

p.S993insFs

c.2978_2979insG

1 paper

NM_015338.6

p.S993fs

c.2977_2978fs

1 paper

NM_015338.6

p.S993fs

c.2977_2978fs

1 paper

NM_015338.6

p.A991T

c.2971G>A

1 paper

NM_015338.6

p.A991fs

c.2971_2972fs

2 papers

NM_015338.6

p.A991_H995delFs

c.2973_2985del13

3 papers

NM_015338.6

p.P994delFs

c.2981delC