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.C463fs

c.1387_1388fs

Surrounding Variants

2 papers

NM_030632.3

p.C463_E464delFs

c.1389_1390delTG

2 papers

NM_030632.3

p.C463*

c.1389T>A

1 paper

NM_030632.3

p.S461_I462insFs

c.1383_1386dup4

1 paper

NM_030632.3

p.T460N

c.1379C>A

1 paper

NM_030632.3

p.T460fs

c.1378_1379fs

9 papers

NM_030632.3

p.Q466*

c.1396C>T

1 paper

NM_030632.3

p.T460insFs

c.1378dupA

2 papers

NM_030632.3

p.E459fs

c.1375_1376fs

2 papers

NM_030632.3

p.E459_T460delFs

c.1377_1378delGA

2 papers

NM_030632.3

p.E468*

c.1402G>T

1 paper

NM_030632.3

p.N469_H470insFs

c.1406_1409dup4

5 papers

NM_030632.3

p.E457*

c.1369G>T