Varaico: Literature-Extracted Genetic Variants

NSD1

882 papers

RefSeq Summary

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein en...

Pfam Domains

PWWPaa 324–431UCSCPWWP domain

PHD-1st_NSDaa 1539–1587UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger 1

PHD_NSDaa 1589–1638UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger

Gene Aliases

HGNC Name

nuclear receptor binding SET domain protein 1

HGNC Previous Symbol

STO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022455.5

p.N1488insFs

c.4463dupA

Surrounding Variants

1 paper

NM_022455.5

p.V1486V

c.4458G>A

1 paper

NM_022455.5

p.N1488delFs

c.4463delA

1 paper

NM_022455.5

p.K1487fs

c.4459_4460fs

1 paper

NM_022455.5

p.K1487*

c.4459A>T

3 papers

NM_022455.5

p.V1486fs

c.4456_4457fs

1 paper

NM_022455.5

p.N1488fs

c.4462_4463fs

1 paper

NM_022455.5

p.N1488fs

c.4462_4463fs

2 papers

NM_022455.5

p.N1488S

c.4463A>G

1 paper

NM_022455.5

p.D1489N

c.4465G>A

1 paper

NM_022455.5

p.K1485insFs

c.4455dupA

2 papers

NM_022455.5

p.K1485delFs

c.4455delA

1 paper

NM_022455.5

p.Q1482*

c.4444C>T