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

5 papers

NM_030632.3

p.D497insFs

c.1491dupT

Surrounding Variants

1 paper

NM_030632.3

p.D497_N498insFs

c.1490_1493dup4

1 paper

NM_030632.3

p.D497fs

c.1489_1490fs

1 paper

NM_030632.3

p.N498fs

c.1492_1493fs

5 papers

NM_030632.3

p.P495insFs

c.1484_1485ins4

2 papers

NM_030632.3

p.E500fs

c.1498_1499fs

2 papers

NM_030632.3

p.E500delFs

c.1500delA

3 papers

NM_030632.3

p.C502_V503insFs

c.1505_1508dup4

1 paper

NM_030632.3

p.A493delFs

c.1477delG

1 paper

NM_030632.3

p.Q491K

c.1471C>A

1 paper

NM_030632.3

p.Q491*

c.1471C>T

3 papers

NM_030632.3

p.M504fs

c.1510_1511fs

2 papers

NM_030632.3

p.T484fs

c.1450_1451fs