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.C1597fs

c.4789_4790fs

Surrounding Variants

1 paper

NM_030632.3

p.C1597S

c.4789T>A

1 paper

NM_030632.3

p.T1596_R1606Fs

c.4788_4816delinsTFs

1 paper

NM_030632.3

p.C1597S

c.4790G>C

1 paper

NM_030632.3

p.Q1600*

c.4798C>T

1 paper

NM_030632.3

p.D1594H

c.4780G>C

1 paper

NM_030632.3

p.E1592K

c.4774G>A

1 paper

NM_030632.3

p.R1606W

c.4816C>T

1 paper

NM_030632.3

p.R1606Q

c.4817G>A

1 paper

NM_030632.3

p.P1586P

c.4758A>G

3 papers

NM_030632.3

p.W1609*

c.4826G>A

3 papers

NM_030632.3

p.W1609*

c.4827G>A

1 paper

NM_030632.3

p.Q1582*

c.4744C>T