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.V1391fs

c.4171_4172fs

Surrounding Variants

2 papers

NM_030632.3

p.V1391fs

c.4171_4172fs

1 paper

NM_030632.3

p.R1392delFs

c.4175_4176delGA

3 papers

NM_030632.3

p.T1390Fs

c.4169delinsCTFs

1 paper

NM_030632.3

p.T1390_V1391delFs

c.4170_4171delTG

2 papers

NM_030632.3

p.T1390fs

c.4168_4169fs

1 paper

NM_030632.3

p.T1389fs

c.4165_4166fs

1 paper

NM_030632.3

p.G1388insFs

c.4164dupT

1 paper

NM_030632.3

p.T1389_T1390del2

c.4165_4169del6

1 paper

NM_030632.3

p.L1395insFs

c.4183dupC

1 paper

NM_030632.3

p.L1395fs

c.4183_4184fs

1 paper

NM_030632.3

p.S1386fs

c.4156_4157fs

1 paper

NM_030632.3

p.S1386delFs

c.4156delT