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.P416L

c.1247C>T

Surrounding Variants

1 paper

NM_030632.3

p.F418fs

c.1252_1253fs

1 paper

NM_030632.3

p.C419insFs

c.1255_1256ins38

1 paper

NM_030632.3

p.C419fs

c.1255_1256fs

1 paper

NM_030632.3

p.A412T

c.1234G>A

1 paper

NM_030632.3

p.C423*

c.1269C>A

1 paper

NM_030632.3

p.S407T

c.1220G>C

1 paper

NM_030632.3

p.V426delFs

c.1276delG

1 paper

NM_030632.3

p.S407fs

c.1219_1220fs

1 paper

NM_030632.3

p.S407fs

c.1219_1220fs

4 papers

NM_030632.3

p.S407delFs

c.1219delA

13 papers

NM_030632.3

p.Q404*

c.1210C>T

1 paper

NM_030632.3

p.Q403*

c.1207C>T