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

14 papers

NM_022455.5

p.Y1997C

c.5990A>G

Surrounding Variants

2 papers

NM_022455.5

p.Y1997S

c.5990A>C

3 papers

NM_022455.5

p.Y1997H

c.5989T>C

1 paper

NM_022455.5

p.M1998fs

c.5992_5993fs

1 paper

NM_022455.5

p.M1998insFs

c.5992_5993dupAT

1 paper

NM_022455.5

p.F1996Y

c.5987T>A

1 paper

NM_022455.5

p.M1998K

c.5993T>A

1 paper

NM_022455.5

p.L1999R

c.5996T>G

1 paper

NM_022455.5

p.T2000insFs

c.5998_5999insTA

1 paper

NM_022455.5

p.T2000delFs

c.5998delA

5 papers

NM_022455.5

p.T2000insFs

c.5998_5999insT

4 papers

NM_022455.5

p.L2001delFs

c.6001delC

1 paper

NM_022455.5

p.T1994insFs

c.5982dupT