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.E557*

c.1669G>T

Surrounding Variants

1 paper

NM_030632.3

p.D555E

c.1665C>A

1 paper

NM_030632.3

p.D555E

c.1665C>G

1 paper

NM_030632.3

p.K559E

c.1675A>G

1 paper

NM_030632.3

p.T556delFs

c.1667_1668delCA

1 paper

NM_030632.3

p.E560K

c.1678G>A

1 paper

NM_030632.3

p.S561*

c.1682C>A

1 paper

NM_030632.3

p.S561*

c.1682C>G

1 paper

NM_030632.3

p.H552Y

c.1654C>T

1 paper

NM_030632.3

p.A564G

c.1691C>G

1 paper

NM_030632.3

p.V565A

c.1694T>C

1 paper

NM_030632.3

p.E566_T567delFs

c.1698_1699delGA

1 paper

NM_030632.3

p.V565V

c.1695A>G