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

3 papers

NM_030632.3

p.F1111delFs

c.3332_3333delTT

Surrounding Variants

1 paper

NM_030632.3

p.F1111fs

c.3331_3332fs

1 paper

NM_030632.3

p.L1110_F1111insFs

c.3330_3333dup4

1 paper

NM_030632.3

p.A1112fs

c.3334_3335fs

1 paper

NM_030632.3

p.K1109*

c.3325A>T

1 paper

NM_030632.3

p.K1109fs

c.3325_3326fs

1 paper

NM_030632.3

p.K1109delFs

c.3325_3326delAA

1 paper

NM_030632.3

p.K1109del1

c.3325_3326delAAG

1 paper

NM_030632.3

p.A1108delFs

c.3324delT

1 paper

NM_030632.3

p.T1106fs

c.3316_3317fs

2 papers

NM_030632.3

p.Q1105_T1106delFs

c.3313_3316del4

16 papers

NM_030632.3

p.R1117*

c.3349C>T

1 paper

NM_030632.3

p.E1104*

c.3310G>T