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

1 paper

NM_030632.3

p.V517_K518delFs

c.1550_1554del5

Surrounding Variants

1 paper

NM_030632.3

p.V517fs

c.1549_1550fs

1 paper

NM_030632.3

p.I519fs

c.1555_1556fs

1 paper

NM_030632.3

p.L512*

c.1535T>A

1 paper

NM_030632.3

p.E520_S523insFs

c.1560_1569dup10

2 papers

NM_030632.3

p.L512fs

c.1534_1535fs

2 papers

NM_030632.3

p.L512fs

c.1534_1535fs

7 papers

NM_030632.3

p.T511_L512delFs

c.1533_1534delTT

1 paper

NM_030632.3

p.S523*

c.1568C>A

1 paper

NM_030632.3

p.S523*

c.1568C>G

1 paper

NM_030632.3

p.E524fs

c.1570_1571fs

2 papers

NM_030632.3

p.Q527insFs

c.1579dupC

2 papers

NM_030632.3

p.Q527fs

c.1579_1580fs