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.Q601H

c.1803G>C

Surrounding Variants

1 paper

NM_030632.3

p.Q601H

c.1803G>T

1 paper

NM_030632.3

p.Q601fs

c.1801_1802fs

1 paper

NM_030632.3

p.Q601*

c.1801C>T

1 paper

NM_030632.3

p.E600E

c.1800A>G

1 paper

NM_030632.3

p.Q601delFs

c.1801_1802delCA

3 papers

NM_030632.3

p.E599*

c.1795G>T

1 paper

NM_030632.3

p.N605I

c.1814A>T

1 paper

NM_030632.3

p.Q595fs

c.1783_1784fs

6 papers

NM_030632.3

p.Q595*

c.1783C>T

1 paper

NM_030632.3

p.E593*

c.1777G>T

1 paper

NM_030632.3

p.D591_L594del4

c.1771_1781del12

1 paper

NM_030632.3

p.S617delFs

c.1849_1850delAG