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

8 papers

NM_030632.3

p.R1060insFs

c.3178dupC

Surrounding Variants

1 paper

NM_030632.3

p.K1058K

c.3174G>A

4 papers

NM_030632.3

p.R1060fs

c.3178_3179fs

3 papers

NM_030632.3

p.R1060W

c.3178C>T

4 papers

NM_030632.3

p.R1060fs

c.3178_3179fs

1 paper

NM_030632.3

p.A1061T

c.3181G>A

1 paper

NM_030632.3

p.A1061insFs

c.3181_3182insC

1 paper

NM_030632.3

p.A1061A

c.3183C>T

1 paper

NM_030632.3

p.Q1062delFs

c.3185_3186delAA

2 papers

NM_030632.3

p.Q1063*

c.3187C>T

1 paper

NM_030632.3

p.A1055T

c.3163G>A

1 paper

NM_030632.3

p.R1052M

c.3155G>T

2 papers

NM_030632.3

p.R1068*

c.3202C>T