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.F742V

c.2224T>G

Surrounding Variants

1 paper

NM_030632.3

p.T740A

c.2218A>G

1 paper

NM_030632.3

p.S744fs

c.2230_2231fs

1 paper

NM_030632.3

p.L746insFs

c.2237dupT

1 paper

NM_030632.3

p.S738F

c.2213C>T

1 paper

NM_030632.3

p.L746fs

c.2236_2237fs

1 paper

NM_030632.3

p.P749fs

c.2245_2246fs

1 paper

NM_030632.3

p.S730*

c.2189C>A

1 paper

NM_030632.3

p.S730*

c.2189C>G

1 paper

NM_030632.3

p.P723R

c.2168C>G

1 paper

NM_030632.3

p.P723fs

c.2167_2168fs

1 paper

NM_030632.3

p.L722_P723insFs

c.2164_2167dup4

1 paper

NM_030632.3

p.S720C

c.2159C>G