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.T844I

c.2531C>T

Surrounding Variants

1 paper

NM_030632.3

p.K846R

c.2537A>G

1 paper

NM_030632.3

p.K846N

c.2538G>C

1 paper

NM_030632.3

p.K846N

c.2538G>T

1 paper

NM_030632.3

p.P847S

c.2539C>T

1 paper

NM_030632.3

p.Y848*

c.2544C>A

1 paper

NM_030632.3

p.Y848*

c.2544C>G

1 paper

NM_030632.3

p.P849L

c.2546C>T

1 paper

NM_030632.3

p.P849delFs

c.2547delT

2 papers

NM_030632.3

p.Q835*

c.2503C>T

1 paper

NM_030632.3

p.E854Q

c.2560G>C

1 paper

NM_030632.3

p.T858I

c.2573C>T

2 papers

NM_030632.3

p.M860K

c.2579T>A