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.M434I

c.1302G>C

Surrounding Variants

1 paper

NM_030632.3

p.M434I

c.1302G>A

1 paper

NM_030632.3

p.M434I

c.1302G>T

1 paper

NM_030632.3

p.L437_E438insFs

c.1310_1314dup5

1 paper

NM_030632.3

p.D432N

c.1294G>A

3 papers

NM_030632.3

p.E438_S439Fs

c.1314_1316delinsAFs

1 paper

NM_030632.3

p.S439fs

c.1315_1316fs

2 papers

NM_030632.3

p.S439fs

c.1315_1316fs

1 paper

NM_030632.3

p.S439*

c.1316C>A

1 paper

NM_030632.3

p.S439*

c.1316C>G

3 papers

NM_030632.3

p.E440insFs

c.1318dupG

3 papers

NM_030632.3

p.E440fs

c.1318_1319fs

1 paper

NM_030632.3

p.D441N

c.1321G>A