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.N201S

c.602A>G

Surrounding Variants

1 paper

NM_022455.5

p.E200K

c.598G>A

1 paper

NM_022455.5

p.S199S

c.597A>T

2 papers

NM_022455.5

p.V203I

c.607G>A

1 paper

NM_022455.5

p.S199_E200insC

c.595_599ins3

1 paper

NM_022455.5

p.K204E

c.610A>G

1 paper

NM_022455.5

p.K204delins

c.610_612delinsGAC

2 papers

NM_022455.5

p.T197P

c.589A>C

1 paper

NM_022455.5

p.Y195fs

c.583_584fs

2 papers

NM_022455.5

p.G208_T214del0

c.623_640del18

1 paper

NM_022455.5

p.S209delins

c.625_626delinsGA

1 paper

NM_022455.5

p.C193Y

c.578G>A

1 paper

NM_022455.5

p.E210K

c.628G>A