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.P1297S

c.3889C>T

Surrounding Variants

1 paper

NM_030632.3

p.A1294P

c.3880G>C

1 paper

NM_030632.3

p.P1304S

c.3910C>T

1 paper

NM_030632.3

p.S1306L

c.3917C>T

1 paper

NM_030632.3

p.I1285T

c.3854T>C

2 papers

NM_030632.3

p.I1285L

c.3853A>C

2 papers

NM_030632.3

p.E1310A

c.3929A>C

1 paper

NM_030632.3

p.L1282*

c.3845T>A

1 paper

NM_030632.3

p.L1282*

c.3845T>G

2 papers

NM_030632.3

p.S1315*

c.3944C>A

2 papers

NM_030632.3

p.S1315*

c.3944C>G

1 paper

NM_030632.3

p.N1278fs

c.3832_3833fs

1 paper

NM_030632.3

p.N1278delFs

c.3832delA