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.G2010delFs

c.6030delT

Surrounding Variants

1 paper

NM_022455.5

p.G2010V

c.6029G>T

1 paper

NM_022455.5

p.P2011S

c.6031C>T

3 papers

NM_022455.5

p.A2009V

c.6026C>T

1 paper

NM_022455.5

p.K2012delFs

c.6036delA

2 papers

NM_022455.5

p.A2009T

c.6025G>A

2 papers

NM_022455.5

p.D2008delFs

c.6024delT

2 papers

NM_022455.5

p.I2007T

c.6020T>C

2 papers

NM_022455.5

p.I2007F

c.6019A>T

1 paper

NM_022455.5

p.N2014K

c.6042C>A

1 paper

NM_022455.5

p.N2014K

c.6042C>G

1 paper

NM_022455.5

p.Y2015H

c.6043T>C

10 papers

NM_022455.5

p.R2005Q

c.6014G>A