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

2 papers

NM_030632.3

p.T1480M

c.4439C>T

Surrounding Variants

1 paper

NM_030632.3

p.T1480S

c.4438A>T

4 papers

NM_030632.3

p.L1481insFs

c.4441dupC

4 papers

NM_030632.3

p.L1481fs

c.4441_4442fs

1 paper

NM_030632.3

p.V1475A

c.4424T>C

5 papers

NM_030632.3

p.T1488_V1489delFs

c.4462_4465del4

1 paper

NM_030632.3

p.L1487fs

c.4459_4460fs

2 papers

NM_030632.3

p.L1487insFs

c.4460dupT

3 papers

NM_030632.3

p.T1488fs

c.4462_4463fs

1 paper

NM_030632.3

p.T1488_V1489ins4

c.4462_4466ins12

3 papers

NM_030632.3

p.T1488fs

c.4462_4463fs

1 paper

NM_030632.3

p.P1470L

c.4409C>T

1 paper

NM_030632.3

p.S1490S

c.4470C>T