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

9 papers

NM_030632.3

p.Q466*

c.1396C>T

Surrounding Variants

2 papers

NM_030632.3

p.E468*

c.1402G>T

2 papers

NM_030632.3

p.C463*

c.1389T>A

1 paper

NM_030632.3

p.N469_H470insFs

c.1406_1409dup4

1 paper

NM_030632.3

p.C463fs

c.1387_1388fs

1 paper

NM_030632.3

p.N469I

c.1406A>T

2 papers

NM_030632.3

p.C463_E464delFs

c.1389_1390delTG

1 paper

NM_030632.3

p.H470fs

c.1408_1409fs

1 paper

NM_030632.3

p.H470fs

c.1408_1409fs

1 paper

NM_030632.3

p.H470P

c.1409A>C

1 paper

NM_030632.3

p.H470_K471Fs

c.1409_1411delinsTTFs

1 paper

NM_030632.3

p.S461_I462insFs

c.1383_1386dup4

1 paper

NM_030632.3

p.K471_I473delFs

c.1413_1417del5