Varaico: Literature-Extracted Genetic Variants

ASXL3

394 papers

RefSeq Summary

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate...

Pfam Domains

HARE-HTHaa 10–81UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 235–360UCSCAsx homology domain

PHD_3aa 2188–2246UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 3

HGNC Previous Symbol

KIAA1713

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_030632.3

p.Q633delFs

c.1897_1898delCA

Surrounding Variants

3 papers

NM_030632.3

p.T632insFs

c.1895dupC

3 papers

NM_030632.3

p.Q633fs

c.1897_1898fs

1 paper

NM_030632.3

p.Q633*

c.1897C>T

9 papers

NM_030632.3

p.Q633fs

c.1897_1898fs

2 papers

NM_030632.3

p.G629fs

c.1885_1886fs

2 papers

NM_030632.3

p.P628_G629delFs

c.1884_1885delAG

1 paper

NM_030632.3

p.E638_T641delFs

c.1913_1922del10

1 paper

NM_030632.3

p.S624R

c.1872C>A

1 paper

NM_030632.3

p.S624R

c.1872C>G

1 paper

NM_030632.3

p.S624R

c.1870A>C

1 paper

NM_030632.3

p.T623P

c.1867A>C

1 paper

NM_030632.3

p.C640Y

c.1919G>A