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.Q768*

c.2302C>T

Surrounding Variants

1 paper

NM_030632.3

p.P778_L779del2

c.2332_2336del6

1 paper

NM_030632.3

p.P781L

c.2342C>T

1 paper

NM_030632.3

p.P749fs

c.2245_2246fs

1 paper

NM_030632.3

p.T789_T798del10

c.2365_2393del30

1 paper

NM_030632.3

p.T789_T798delFs

c.2366_2393del28

1 paper

NM_030632.3

p.L746fs

c.2236_2237fs

1 paper

NM_030632.3

p.L746insFs

c.2237dupT

1 paper

NM_030632.3

p.S744fs

c.2230_2231fs

1 paper

NM_030632.3

p.F742V

c.2224T>G

1 paper

NM_030632.3

p.E795K

c.2383G>A

1 paper

NM_030632.3

p.T740A

c.2218A>G

1 paper

NM_030632.3

p.L797I

c.2389C>A