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.R1467_S1468insFs

c.4400_4403dup4

Surrounding Variants

8 papers

NM_030632.3

p.R1467*

c.4399C>T

1 paper

NM_030632.3

p.S1468*

c.4403C>A

1 paper

NM_030632.3

p.S1468*

c.4403C>G

1 paper

NM_030632.3

p.P1470fs

c.4408_4409fs

1 paper

NM_030632.3

p.P1470L

c.4409C>T

1 paper

NM_030632.3

p.A1463P

c.4387G>C

1 paper

NM_030632.3

p.F1460fs

c.4378_4379fs

1 paper

NM_030632.3

p.G1459delFs

c.4377delC

1 paper

NM_030632.3

p.V1475A

c.4424T>C

2 papers

NM_030632.3

p.Q1454*

c.4360C>T

1 paper

NM_030632.3

p.T1480S

c.4438A>T

2 papers

NM_030632.3

p.T1480M

c.4439C>T