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.Q491K

c.1471C>A

Surrounding Variants

1 paper

NM_030632.3

p.Q491*

c.1471C>T

1 paper

NM_030632.3

p.A493delFs

c.1477delG

5 papers

NM_030632.3

p.P495insFs

c.1484_1485ins4

1 paper

NM_030632.3

p.D497_N498insFs

c.1490_1493dup4

1 paper

NM_030632.3

p.D497fs

c.1489_1490fs

5 papers

NM_030632.3

p.D497insFs

c.1491dupT

2 papers

NM_030632.3

p.T484fs

c.1450_1451fs

1 paper

NM_030632.3

p.N498fs

c.1492_1493fs

4 papers

NM_030632.3

p.T484fs

c.1450_1451fs

1 paper

NM_030632.3

p.T484_N485delFs

c.1451_1454del4

7 papers

NM_030632.3

p.L483insFs

c.1448dupT

1 paper

NM_030632.3

p.S482G

c.1444A>G