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

2 papers

NM_022455.5

p.S571F

c.1712C>T

Surrounding Variants

3 papers

NM_022455.5

p.S572delFs

c.1716delC

1 paper

NM_022455.5

p.S572insFs

c.1715_1716insCA

1 paper

NM_022455.5

p.S572S

c.1716C>T

2 papers

NM_022455.5

p.C573fs

c.1717_1718fs

1 paper

NM_022455.5

p.G574fs

c.1720_1721fs

5 papers

NM_022455.5

p.N576insFs

c.1727_1728insA

5 papers

NM_022455.5

p.N576delFs

c.1727delA

1 paper

NM_022455.5

p.T577insFs

c.1730_1731insAC

2 papers

NM_022455.5

p.N576fs

c.1726_1727fs

2 papers

NM_022455.5

p.G566E

c.1697G>A

1 paper

NM_022455.5

p.N576N

c.1728C>T

2 papers

NM_022455.5

p.G566delFs

c.1697delG