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.E1690*

c.5068G>T

Surrounding Variants

1 paper

NM_030632.3

p.P1689L

c.5066C>T

1 paper

NM_030632.3

p.P1694L

c.5081C>T

1 paper

NM_030632.3

p.A1695G

c.5084C>G

1 paper

NM_030632.3

p.G1698_A1699del2

c.5092_5096del6

1 paper

NM_030632.3

p.S1700C

c.5099C>G

1 paper

NM_030632.3

p.A1675G

c.5024C>G

5 papers

NM_030632.3

p.M1708V

c.5122A>G

1 paper

NM_030632.3

p.M1708I

c.5124G>A

1 paper

NM_030632.3

p.M1708I

c.5124G>C

1 paper

NM_030632.3

p.M1708I

c.5124G>T

1 paper

NM_030632.3

p.V1668M

c.5002G>A

1 paper

NM_030632.3

p.P1667_V1668del2

c.4999_5003del6