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.V1913_D1922del10

c.5737_5765del30

Surrounding Variants

2 papers

NM_030632.3

p.R1899W

c.5695C>T

5 papers

NM_030632.3

p.Q1897_K1898del2

c.5689_5693del6

1 paper

NM_030632.3

p.K1895K

c.5685A>G

1 paper

NM_030632.3

p.V1894_K1895del2

c.5680_5684del6

1 paper

NM_030632.3

p.Q1933*

c.5797C>T

3 papers

NM_030632.3

p.R1887*

c.5659A>T

1 paper

NM_030632.3

p.R1939T

c.5816G>C

2 papers

NM_030632.3

p.M1884_Q1885del2

c.5650_5654del6

1 paper

NM_030632.3

p.I1942V

c.5824A>G

1 paper

NM_030632.3

p.E1877Q

c.5629G>C

1 paper

NM_030632.3

p.T1954fs

c.5860_5861fs

1 paper

NM_030632.3

p.V1956delFs

c.5868delG