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

67 papers

NM_015338.6

p.E635fs

c.1903_1904fs

Surrounding Variants

5 papers

NM_015338.6

p.E635*

c.1903G>T

83 papers

NM_015338.6

p.E635fs

c.1903_1904fs

1 paper

NM_015338.6

p.A636insFs

c.1906dupG

1 paper

NM_015338.6

p.A636_G643delFs

c.1907_1928del22

1 paper

NM_015338.6

p.E635_A636delFs

c.1905_1906delGG

1 paper

NM_015338.6

p.R634Fs

c.1901delinsTATFs

2 papers

NM_015338.6

p.A636delFs

c.1906_1907delGC

6 papers

NM_015338.6

p.R634fs

c.1900_1901fs

1 paper

NM_015338.6

p.R634Fs

c.1900delinsCGGAGFs

7 papers

NM_015338.6

p.R634*

c.1900A>T

3 papers

NM_015338.6

p.R634fs

c.1900_1901fs

1 paper

NM_015338.6

p.R634_A640delFs

c.1902_1918del17