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.K1550_A1554del5

c.4648_4661del15

Surrounding Variants

2 papers

NM_030632.3

p.D1548G

c.4643A>G

1 paper

NM_030632.3

p.K1546N

c.4638A>T

1 paper

NM_030632.3

p.I1540S

c.4619T>G

4 papers

NM_030632.3

p.R1560*

c.4678C>T

1 paper

NM_030632.3

p.R1560Q

c.4679G>A

1 paper

NM_030632.3

p.T1538fs

c.4612_4613fs

1 paper

NM_030632.3

p.S1536I

c.4607G>T

4 papers

NM_030632.3

p.D1534_H1535del2

c.4600_4604del6

2 papers

NM_030632.3

p.I1533_D1534del2

c.4597_4601del6

1 paper

NM_030632.3

p.L1569_N1570delFs

c.4706_4710del5

1 paper

NM_030632.3

p.N1530S

c.4589A>G

2 papers

NM_030632.3

p.P1572L

c.4715C>T