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.K1997K

c.5991A>G

Surrounding Variants

1 paper

NM_030632.3

p.E1998K

c.5992G>A

1 paper

NM_030632.3

p.E1998Q

c.5992G>C

1 paper

NM_030632.3

p.M1996insFs

c.5987_5988insG

1 paper

NM_030632.3

p.P1995S

c.5983C>T

2 papers

NM_030632.3

p.N1993S

c.5978A>G

1 paper

NM_030632.3

p.Q1983*

c.5947C>T

1 paper

NM_030632.3

p.P2017T

c.6049C>A

1 paper

NM_030632.3

p.P2017L

c.6050C>T

5 papers

NM_030632.3

p.S1978_P1981del4

c.5932_5942del12

1 paper

NM_030632.3

p.P2019S

c.6055C>T

1 paper

NM_030632.3

p.P2022insFs

c.6064_6065dupCC

1 paper

NM_030632.3

p.P2022fs

c.6064_6065fs