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.E1184fs

c.3550_3551fs

Surrounding Variants

1 paper

NM_022455.5

p.E1184insFs

c.3550_3551insT

6 papers

NM_022455.5

p.E1184*

c.3550G>T

11 papers

NM_022455.5

p.S1183insFs

c.3549dupT

1 paper

NM_022455.5

p.S1183C

c.3548C>G

3 papers

NM_022455.5

p.S1183fs

c.3547_3548fs

1 paper

NM_022455.5

p.C1185_A1186insG

c.3553_3557ins3

1 paper

NM_022455.5

p.S1183delFs

c.3548_3549delCT

1 paper

NM_022455.5

p.N1182Y

c.3544A>T

1 paper

NM_022455.5

p.A1186T

c.3556G>A

1 paper

NM_022455.5

p.A1186S

c.3556G>T

1 paper

NM_022455.5

p.A1186delins

c.3556_3557delinsAT

1 paper

NM_022455.5

p.A1186A

c.3558C>G