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.N1348K

c.4044C>G

Surrounding Variants

1 paper

NM_030632.3

p.N1348K

c.4044C>A

1 paper

NM_030632.3

p.N1349K

c.4047T>A

1 paper

NM_030632.3

p.N1349K

c.4047T>G

1 paper

NM_030632.3

p.I1346fs

c.4036_4037fs

2 papers

NM_030632.3

p.S1345insFs

c.4034_4035dupCC

1 paper

NM_030632.3

p.S1354delFs

c.4060_4061delTC

1 paper

NM_030632.3

p.S1354fs

c.4060_4061fs

1 paper

NM_030632.3

p.P1342L

c.4025C>T

1 paper

NM_030632.3

p.V1341del1

c.4021_4022delGTG

1 paper

NM_030632.3

p.V1341delFs

c.4022_4023delTG

4 papers

NM_030632.3

p.V1358delFs

c.4072_4073delGT

1 paper

NM_030632.3

p.V1358L

c.4072G>C