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

3 papers

NM_015338.6

p.G652fs

c.1954_1955fs

Surrounding Variants

34 papers

NM_015338.6

p.G652S

c.1954G>A

3 papers

NM_015338.6

p.G652C

c.1954G>T

1 paper

NM_015338.6

p.G652fs

c.1954_1955fs

1 paper

NM_015338.6

p.G651_G652insFs

c.1953_1954insA

1 paper

NM_015338.6

p.G652insFs

c.1955dupG

1 paper

NM_015338.6

p.G651G

c.1953C>T

1 paper

NM_015338.6

p.G652D

c.1955G>A

2 papers

NM_015338.6

p.G653_T655delFs

c.1957_1964del8

2 papers

NM_015338.6

p.A654insFs

c.1960dupG

1 paper

NM_015338.6

p.G652G

c.1956C>T

1 paper

NM_015338.6

p.G651_G652insFs

c.1953_1954ins4

5 papers

NM_015338.6

p.G653R

c.1957G>A