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

2 papers

NM_030632.3

p.Q1454*

c.4360C>T

Surrounding Variants

1 paper

NM_030632.3

p.G1451_Q1454del4

c.4351_4361del12

1 paper

NM_030632.3

p.G1459delFs

c.4377delC

1 paper

NM_030632.3

p.F1460fs

c.4378_4379fs

2 papers

NM_030632.3

p.R1446fs

c.4336_4337fs

1 paper

NM_030632.3

p.R1446fs

c.4336_4337fs

4 papers

NM_030632.3

p.R1446delFs

c.4336_4337delAG

1 paper

NM_030632.3

p.A1463P

c.4387G>C

1 paper

NM_030632.3

p.R1444Q

c.4331G>A

21 papers

NM_030632.3

p.R1444*

c.4330C>T

4 papers

NM_030632.3

p.S1441*

c.4322C>A

1 paper

NM_030632.3

p.R1467_S1468insFs

c.4400_4403dup4

4 papers

NM_030632.3

p.S1441*

c.4322C>G