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.S681insFs

c.2041_2042insA

Surrounding Variants

1 paper

NM_030632.3

p.S681fs

c.2041_2042fs

1 paper

NM_030632.3

p.E679*

c.2035G>T

2 papers

NM_030632.3

p.I689fs

c.2065_2066fs

3 papers

NM_030632.3

p.I689L

c.2065A>C

3 papers

NM_030632.3

p.I689L

c.2065A>T

2 papers

NM_030632.3

p.I689delFs

c.2066delT

1 paper

NM_030632.3

p.S690delFs

c.2070delA

1 paper

NM_030632.3

p.E691fs

c.2071_2072fs

1 paper

NM_030632.3

p.D669V

c.2006A>T

5 papers

NM_030632.3

p.Q664*

c.1990C>T

1 paper

NM_030632.3

p.N663H

c.1987A>C

1 paper

NM_030632.3

p.L700delFs

c.2099delT