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

6 papers

NM_030632.3

p.T659_D660delFs

c.1975_1978del4

Surrounding Variants

3 papers

NM_030632.3

p.T659_D660del2

c.1975_1979del6

3 papers

NM_030632.3

p.D660fs

c.1978_1979fs

3 papers

NM_030632.3

p.D660fs

c.1978_1979fs

1 paper

NM_030632.3

p.N663H

c.1987A>C

5 papers

NM_030632.3

p.Q664*

c.1990C>T

1 paper

NM_030632.3

p.E652delFs

c.1955delA

1 paper

NM_030632.3

p.D669V

c.2006A>T

1 paper

NM_030632.3

p.T647fs

c.1939_1940fs

1 paper

NM_030632.3

p.S644C

c.1931C>G

3 papers

NM_030632.3

p.P642L

c.1925C>T

2 papers

NM_030632.3

p.P642fs

c.1924_1925fs

1 paper

NM_030632.3

p.T641A

c.1921A>G